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anti-CYP21A2 antibody :: Rabbit anti-Human Cytochrome P450 21A2 Antibody

Catalog #    MBS856347 anti-CYP21A2 antibody
Unit / Price
0.1 mg  /  $290 +1 FREE 8GB USB
 
 Go to:     Product Names    Product Info    Accession #s    Product Desc    Diseases/Tissues/Pathways    Applications    References 
 Product Name   

Cytochrome P450 21A2 (CYP21A2), Antibody

 Also Known As   

Cytochrome P450 21A2 Antibody

 Product Synonym Names    Cytochrome P450 21; EC 1.14.99.10; Cytochrome P450 XXI; Steroid 21-hydroxylase; 21-Ohase; P450-C21; P-450c21; P450-C21B; CYP21; CYP21B; CP21A
 Product Gene Name   

anti-CYP21A2 antibody

[Similar Products]
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 Immunogen Sequence Length    495
 OMIM    phenotype 613815
 3D Structure    ModBase 3D Structure for P08686
 Host    Rabbit
 Species Reactivity    Human
 Specificity    Cytochrome P450 21A2 antibody detects endogenous levels of total Cytochrome P450 21A2 protein.
 Purity/Purification    The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
 Form/Format    Rabbit IgG in phosphate buffered saline (without Mg2+ and Ca2+), pH 7.4, 150mM NaCl, 0.02% sodium azide and 50% glycerol.
 Immunogen    The antiserum was produced against synthesized peptide derived from internal of human Cytochrome P450 21A2.
 Pathway    Translation
 Preparation and Storage    Store at -20 degree C for 1 year
 Other Notes for anti-CYP21A2 antibody    Small volumes of anti-CYP21A2 antibody may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice.
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 Product Categories/Family for anti-CYP21A2 antibody    Cancer; Cardiovascular; Cell Biology; Epigenetics & Nuclear Signaling; Developmental Biologys; Immunology; Drug Discovery Products; Metabolism; Neuroscience; Signal Transduction; Stem Cells; Autophagy antibody
 Applications Tested/Suitable for anti-CYP21A2 antibody   

Western Blot (WB), ELISA (EIA)

 Application Notes for anti-CYP21A2 antibody    WB: 1:500~1:1000, ELISA: 1:20000
 Testing Data for anti-CYP21A2 antibody    Western blot analysis of extracts from 293 cells, using Cytochrome P450 21A2 antibody.
anti-CYP21A2 antibody Testing Data image
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NCBI/Uniprot data below describe general gene information for CYP21A2. It may not necessarily be applicable to this product.
 NCBI GI #    323510663 [Other Products]
 NCBI GeneID    1589 [Other Products]
 NCBI Accession #    NP_000491.4 [Other Products]
 NCBI GenBank Nucleotide #    NM_000500.7 [Other Products]
 UniProt Primary Accession #    P08686 [Other Products]
 UniProt Secondary Accession #    P04033; Q01204; Q08AG8; Q16749; Q16806; Q5ST44; Q96NU8; A2BHY6 [Other Products]
 UniProt Related Accession #    P08686 [Other Products]
 Molecular Weight    52,597 Da [Similar Products]
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 NCBI Official Full Name    steroid 21-hydroxylase isoform a
 NCBI Official Synonym Full Names    cytochrome P450, family 21, subfamily A, polypeptide 2
 NCBI Official Symbol    CYP21A2 [Similar Products]
 NCBI Official Synonym Symbols   

CAH1; CPS1; CA21H; CYP21; CYP21B; P450c21B

[Similar Products]
 NCBI Protein Information    steroid 21-hydroxylase; 21-OHase; cytochrome P450 XXI; cytochrome P450-C21B; steroid 21-monooxygenase; cytochrome P450, subfamily XXIA (steroid 21-hydroxylase, congenital adrenal hyperplasia), polypeptide 2
 UniProt Protein Name    Steroid 21-hydroxylase
 UniProt Synonym Protein Names   

21-OHase; Cytochrome P-450c21; Cytochrome P450 21; Cytochrome P450 XXI; Cytochrome P450-C21; Cytochrome P450-C21B

 UniProt Gene Name    CYP21A2 [Similar Products]
 UniProt Synonym Gene Names    CYP21; CYP21B [Similar Products]
 UniProt Entry Name    CP21A_HUMAN
 NCBI Summary for CYP21A2    This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and hydroxylates steroids at the 21 position. Its activity is required for the synthesis of steroid hormones including cortisol and aldosterone. Mutations in this gene cause congenital adrenal hyperplasia. A related pseudogene is located near this gene; gene conversion events involving the functional gene and the pseudogene are thought to account for many cases of steroid 21-hydroxylase deficiency. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
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Product References and Citations specifically for anti-CYP21A2 antibody

   Helmberg A., Mol. Endocrinol. 6:1318-1322(1992).
Collier S., Nat. Genet. 3:260-265(1993).
White P.C., Hum. Mutat. 3:373-378(1994).
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 UniProt References for CYP21A2    1. "Complete sequencing and characterization of 21,243 full-length human cDNAs."Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ALLELE CYP21A2*6) (ISOFORM 2). Tissue: Adrenal gland.
2. "The DNA sequence and analysis of human chromosome 6."Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D. , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S.Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract]. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
3. Mural R.J., Istrail S., Sutton G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."The MGC Project TeamGenome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT SER-493. "A de novo pathological point mutation at the 21-hydroxylase locus: implications for gene conversion in the human genome."Collier S., Tassabehji M., Sinnott P., Strachan T.Nat. Genet. 3:260-265(1993) [PubMed] [Europe PMC] [Abstract]. Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 109-185, VARIANT ASN-172. "Mapping of steroid 21-hydroxylase genes adjacent to complement component C4 genes in HLA, the major histocompatibility complex in man."Carroll M.C., Campbell R.D., Porter R.R.Proc. Natl. Acad. Sci. U.S.A. 82:521-525(1985) [PubMed] [Europe PMC] [Abstract]. Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 149-182, VARIANT AH3 ASN-172. "Mutation in the CYP21B gene (Ile-172-->Asn) causes steroid 21-hydroxylase deficiency."Amor M., Parker K.L., Globerman H., New M.I., White P.C.Proc. Natl. Acad. Sci. U.S.A. 85:1600-1604(1988) [PubMed] [Europe PMC] [Abstract]. Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 149-182, VARIANT AH3 ASN-172. "P450XXI (steroid 21-hydroxylase) gene deletions are not found in family studies of congenital adrenal hyperplasia."Matteson K.J., Phillips J.A. III, Miller W.L., Chung B.C., Orlando P.J., Frisch H., Ferrandez A., Burr I.M.Proc. Natl. Acad. Sci. U.S.A. 84:5858-5862(1987) [PubMed] [Europe PMC] [Abstract]. Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 265-494 (ISOFORM 1), VARIANT AH3 LEU-281. "Mutations of P450c21 (steroid 21-hydroxylase) at Cys428, Val281, and Ser268 result in complete, partial, or no loss of enzymatic activity, respectively."Wu D.-A., Chung B.-C.J. Clin. Invest. 88:519-523(1991) [PubMed] [Europe PMC] [Abstract]. Cited for: CHARACTERIZATION OF VARIANT AH3 LEU-281, MUTAGENESIS OF SER-268 AND CYS-428. "Molecular genetics of 21-hydroxylase deficient late-onset adrenal hyperplasia."Gunn S.K., Sherman L.D., Therrell B.L., Owerbach D.I.Semin. Reprod. Endocrinol. 11:347-352(1993). Cited for: REVIEW ON AH3 VARIANTS. "Mutations in steroid 21-hydroxylase (CYP21)."White P.C., Tusie-Luna M.-T., New M.I., Speiser P.W.Hum. Mutat. 3:373-378(1994) [PubMed] [Europe PMC] [Abstract]. Cited for: REVIEW ON AH3 VARIANTS, GENE CONVERSION. "Molecular genetic analysis of nonclassic steroid 21-hydroxylase deficiency associated with HLA-B14,DR1."Speiser P.W., New M.I., White P.C.N. Engl. J. Med. 319:19-23(1988) [PubMed] [Europe PMC] [Abstract]. Cited for: VARIANTS AH3 LEU-211 AND LEU-281. "A missense mutation at Ile172-->Asn or Arg356-->Trp causes steroid 21-hydroxylase deficiency."Chiou S.-H., Hu M.-C., Chung B.-C.J. Biol. Chem. 265:3549-3552(1990) [PubMed] [Europe PMC] [Abstract]. Cited for: VARIANTS AH3 ASN-172 AND TRP-356, VARIANT LEU-9 INS. "Substitution of Ile-172 to Asn in the steroid 21-hydroxylase B (P450c21B) gene in a Finnish patient with the simple virilizing form of congenital adrenal hyperplasia."Partanen J., Campbell R.D.Hum. Genet. 87:716-720(1991) [PubMed] [Europe PMC] [Abstract]. Cited for: VARIANT AH3 ASN-172. "A mutation (Pro-30 to Leu) in CYP21 represents a potential nonclassic steroid 21-hydroxylase deficiency allele."Tusie-Luna M.T., Speiser P.W., Dumic M., New M.I., White P.C.Mol. Endocrinol. 5:685-692(1991) [PubMed] [Europe PMC] [Abstract]. Cited for: VARIANT AH3 LEU-30, VARIANT THR-268. "Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency."Speiser P.W., Dupont J., Zhu D., Serrat J., Buegeleisen M., Tusie-Luna M.-T., Lesser M., New M.I., White P.C.J. Clin. Invest. 90:584-595(1992) [PubMed] [Europe PMC] [Abstract]. Cited for: VARIANTS AH3 LEU-30; ASN-172; ASN-236; GLU-237; LYS-239; LEU-281 AND TRP-356. "Pro-453 to Ser mutation in CYP21 is associated with nonclassic steroid 21-hydroxylase deficiency."Owerbach D., Sherman L., Ballard A.L., Azziz R.Mol. Endocrinol. 6:1211-1215(1992) [PubMed] [Europe PMC] [Abstract]. Cited for: VARIANT AH3 SER-453. "Steroid 21-hydroxylase deficiency: three additional mutated alleles and establishment of phenotype-genotype relationships of common mutations."Wedell A., Ritzen E.M., Haglund-Stengler B., Luthman H.Proc. Natl. Acad. Sci. U.S.A. 89:7232-7236(1992) [PubMed] [Europe PMC] [Abstract]. Cited for: VARIANTS AH3 LEU-105; SER-291 AND SER-453. "Steroid 21-hydroxylase (P450c21): a new allele and spread of mutations through the pseudogene."Wedell A., Luthman H.Hum. Genet. 91:236-240(1993) [PubMed] [Europe PMC] [Abstract]. Cited for: VARIANT AH3 PRO-483. "Screening of CYP21 gene mutations in 129 French patients affected by steroid 21-hydroxylase deficiency."Barbat B., Bogyo A., Raux-Demay M.-C., Kuttenn F., Boue J., Simon-Bouy B., Serre J.-L., Boue A., Mornet E.Hum. Mutat. 5:126-130(1995) [PubMed] [Europe PMC] [Abstract]. Cited for: VARIANTS AH3 ASN-172; ASN-236; LEU-281 AND PRO-483, VARIANT SER-493. "E380D: a novel point mutation of CYP21 in an HLA-homozygous patient with salt-losing congenital adrenal hyperplasia due to 21-hydroxylase deficiency."Kirby-Keyser L., Porter C.C., Donohoue P.A.Hum. Mutat. 9:181-182(1997) [PubMed] [Europe PMC] [Abstract]. Cited for: VARIANT AH3 ASP-380. "A cluster of missense mutations at Arg356 of human steroid 21-hydroxylase may impair redox partner interaction."Lajic S., Levo A., Nikoshkov A., Lundberg Y., Partanen J., Wedell A.Hum. Genet. 99:704-709(1997) [PubMed] [Europe PMC] [Abstract]. Cited for: VARIANTS AH3 PRO-356 AND GLN-356. "Synergistic effect of partially inactivating mutations in steroid 21-hydroxylase deficiency."Nikoshkov A., Lajic S., Holst M., Wedell A., Luthman H.J. Clin. Endocrinol. Metab. 82:194-199(1997) [PubMed] [Europe PMC] [Abstract]. Cited for: VARIANTS AH3 LEU-105 AND SER-453. "Molecular genetic analysis of patients carrying steroid 21-hydroxylase deficiency in the Mexican population: identification of possible new mutations and high prevalence of apparent germ-line mutations."Ordonez-Sanchez M.L., Ramirez-Jimenez S., Lopez-Gutierrez A.U., Riba L., Gamboa-Cardiel S., Cerrillo-Hinojosa M., Altamirano-Bustamante N., Calzada-Leon R., Robles-Valdes C., Mendoza-Morfin F., Tusie-Luna M.T.Hum. Genet. 102:170-177(1998) [PubMed] [Europe PMC] [Abstract]. Cited for: VARIANTS AH3, VARIANTS. "Naturally occurring mutants of human steroid 21-hydroxylase (P450c21) pinpoint residues important for enzyme activity and stability."Nikoshkov A., Lajic S., Vlamis-Gardikas A., Tranebjaerg L., Holst M., Wedell A., Luthman H.J. Biol. Chem. 273:6163-6165(1998) [PubMed] [Europe PMC] [Abstract]. Cited for: VARIANTS AH3 GLU-196 DEL; SER-291 AND PRO-483. "Effects of missense mutations and deletions on membrane anchoring and enzyme function of human steroid 21-hydroxylase (P450c21)."Lajic S., Nikoshkov A., Holst M., Wedell A.Biochem. Biophys. Res. Commun. 257:384-390(1999) [PubMed] [Europe PMC] [Abstract]. Cited for: VARIANT AH3 GLN-30, CHARACTERIZATION OF VARIANT AH3 GLN-30. "Mutation analysis in patients with congenital adrenal hyperplasia in the Spanish population: identification of putative novel steroid 21-hydroxylase deficiency alleles associated with the classic form of the disease."Lobato M.N., Ordonez-Sanchez M.L., Tusie-Luna M.T., Meseguer A.Hum. Hered. 49:169-175(1999) [PubMed] [Europe PMC] [Abstract]. Cited for: VARIANTS AH3 LEU-30; VAL-90; ASN-172; ALA-178; LEU-281; CYS-291; HIS-354; TRP-356 AND SER-453. "Identification of CYP21 mutations, one novel, by single strand conformational polymorphism (SSCP) analysis."Witchel S.F., Smith R., Suda-Hartman M.Hum. Mutat. 13:172-172(1999) [PubMed] [Europe PMC] [Abstract]. Cited for: VARIANTS AH3 TYR-169; LEU-281 AND GLN-356. "Steroid 21-hydroxylase deficiency: mutational spectrum in Denmark, three novel mutations, and in vitro expression analysis."Ohlsson G., Mueller J., Skakkebaek N.E., Schwartz M.Hum. Mutat. 13:482-486(1999) [PubMed] [Europe PMC] [Abstract]. Cited for: VARIANTS AH3 LEU-30; GLU-64; ASN-172; ASN-236; LEU-281; SER-291; TRP-356 AND VAL-362. "A rapid screening for steroid 21-hydroxylase mutations in patients with congenital adrenal hyperplasia."Kapelari K., Ghanaati Z., Wollmann H., Ventz M., Ranke M.B., Kofler R., Peters H.Hum. Mutat. 13:505-505(1999) [PubMed] [Europe PMC] [Abstract]. Cited for: VARIANTS AH3 LEU-30; ASN-172; ASN-236; GLU-237; LYS-239; LEU-281 AND TRP-356. "A novel missense mutation, GLY424SER, in Brazilian patients with 21-hydroxylase deficiency."Billerbeck A.E.C., Bachega T.A.S.S., Frazatto E.T., Nishi M.Y., Goldberg A.C., Marin M.L.C., Madureira G., Monte O., Arnhold I.J.P., Mendonca B.B.J. Clin. Endocrinol. Metab. 84:2870-2872(1999) [PubMed] [Europe PMC] [Abstract]. Cited for: VARIANTS AH3 LEU-281; TRP-356 AND SER-424. "Molecular analysis of Japanese patients with steroid 21-hydroxylase deficiency."Asanuma A., Ohura T., Ogawa E., Sato S., Igarashi Y., Matsubara Y., Iinuma K.J. Hum. Genet. 44:312-317(1999) [PubMed] [Europe PMC] [Abstract]. Cited for: VARIANTS AH3 LEU-30; ASN-172; LEU-281; TRP-356 AND SER-493, VARIANT THR-268. "Mutation screening in British 21-hydroxylase deficiency families and development of novel microsatellite based approaches to prenatal diagnosis."Lako M., Ramsden S., Campbell R.D., Strachan T.J. Med. Genet. 36:119-124(1999) [PubMed] [Europe PMC] [Abstract]. Cited for: VARIANTS AH3 ASN-172 AND TRP-356. "Characterization of single-nucleotide polymorphisms in coding regions of human genes."Cargill M., Altshuler D., Ireland J., Sklar P., Ardlie K., Patil N., Shaw N., Lane C.R., Lim E.P., Kalyanaraman N., Nemesh J., Ziaugra L., Friedland L., Rolfe A., Warrington J., Lipshutz R., Daley G.Q., Lander E.S.Nat. Genet. 22:231-238(1999) [PubMed] [Europe PMC] [Abstract]. Cited for: VARIANTS AH3 LEU-281 AND SER-453, VARIANTS THR-268 AND SER-493. ErratumCargill M., Altshuler D., Ireland J., Sklar P., Ardlie K., Patil N., Shaw N., Lane C.R., Lim E.P., Kalyanaraman N., Nemesh J., Ziaugra L., Friedland L., Rolfe A., Warrington J., Lipshutz R., Daley G.Q., Lander E.S.Nat. Genet. 23:373-373(1999)"Predicting phenotype in steroid 21-hydroxylase deficiency? Comprehensive genotyping in 155 unrelated, well defined patients from southern Germany."Krone N., Braun A., Roscher A.A., Knorr D., Schwarz H.P.J. Clin. Endocrinol. Metab. 85:1059-1065(2000) [PubMed] [Europe PMC] [Abstract]. Cited for: VARIANTS AH3 LEU-30; ASN-172; LEU-281; GLY-281; PHE-300; CYS-354; TRP-356 AND SER-453. "Molecular analysis of CYP-21 mutations for congenital adrenal hyperplasia in Singapore."Loke K.Y., Lee Y.S., Lee W.W.R., Poh L.K.S.Horm. Res. 55:179-184(2001) [PubMed] [Europe PMC] [Abstract]. Cited for: VARIANTS AH3 LEU-30; ASN-172; PRO-261; TRP-356 AND PRO-483. "Phenotype-genotype correlation in 56 women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency."Deneux C., Tardy V., Dib A., Mornet E., Billaud L., Charron D., Morel Y., Kuttenn F.J. Clin. Endocrinol. Metab. 86:207-213(2001) [PubMed] [Europe PMC] [Abstract]. Cited for: VARIANTS AH3 LEU-30; ASN-172; LEU-281; MET-317; TRP-356; CYS-435 AND SER-453. "Mutational spectrum of the steroid 21-hydroxylase gene in Austria: identification of a novel missense mutation."Baumgartner-Parzer S.M., Schulze E., Waldhaeusl W., Pauschenwein S., Rondot S., Nowotny P., Meyer K., Frisch H., Waldhauser F., Vierhapper H.J. Clin. Endocrinol. Metab. 86:4771-4775(2001) [PubMed] [Europe PMC] [Abstract]. Cited for: VARIANTS AH3 LEU-30; ASN-172; LEU-281; SER-291; TRP-356; SER-424; HIS-426; SER-453 AND PRO-483, CHARACTERIZATION OF VARIANT AH3 HIS-426. "Novel mutations in the human CYP21 gene."Levo A., Partanen J.Prenat. Diagn. 21:885-889(2001) [PubMed] [Europe PMC] [Abstract]. Cited for: VARIANT AH3 TRP-363. "Non-classical 21-hydroxylase deficiency in children: association of adrenocorticotropic hormone-stimulated 17-hydroxyprogesterone with the risk of compound heterozygosity with severe mutations."Ezquieta B., Cueva E., Varela J., Oliver A., Fernandez J., Jariego C.Acta Paediatr. 91:892-898(2002) [PubMed] [Europe PMC] [Abstract]. Cited for: VARIANTS AH3 LEU-30; ASN-172; LEU-281; LEU-283; TRP-356 AND SER-453. "Novel mutations in CYP21 detected in individuals with hyperandrogenism."Lajic S., Clauin S., Robins T., Vexiau P., Blanche H., Bellanne-Chantelot C., Wedell A.J. Clin. Endocrinol. Metab. 87:2824-2829(2002) [PubMed] [Europe PMC] [Abstract]. Cited for: VARIANTS HYPERANDROGENISM MET-304; SER-375 AND SER-453, CHARACTERIZATION OF VARIANTS HYPERANDROGENISM MET-304; SER-375 AND SER-453. "Three novel mutations in CYP21 gene in Brazilian patients with the classical form of 21-hydroxylase deficiency due to a founder effect."Billerbeck A.E.C., Mendonca B.B., Pinto E.M., Madureira G., Arnhold I.J.P., Bachega T.A.S.S.J. Clin. Endocrinol. Metab. 87:4314-4317(2002) [PubMed] [Europe PMC] [Abstract]. Cited for: VARIANTS AH3 CYS-408 AND SER-424. "Mutational spectrum of congenital adrenal hyperplasia in Slovenian patients: a novel Ala15Thr mutation and Pro30Leu within a larger gene conversion associated with a severe form of the disease."Dolzan V., Stopar-Obreza M., Zerjav-Tansek M., Breskvar K., Krzisnik C., Battelino T.Eur. J. Endocrinol. 149:137-144(2003) [PubMed] [Europe PMC] [Abstract]. Cited for: VARIANTS AH3 THR-15; LEU-30; ASN-172; LEU-281 AND SER-453. "Follow-up of 68 children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency: relevance of genotype for management."Pinto G., Tardy V., Trivin C., Thalassinos C., Lortat-Jacob S., Nihoul-Fekete C., Morel Y., Brauner R.J. Clin. Endocrinol. Metab. 88:2624-2633(2003) [PubMed] [Europe PMC] [Abstract]. Cited for: VARIANTS AH3 LEU-30; LEU-62; ASN-172; LEU-281; PRO-341; TRP-356; SER-453 AND PRO-483. "CYP21 gene mutation analysis in 198 patients with 21-hydroxylase deficiency in The Netherlands: six novel mutations and a specific cluster of four mutations."Stikkelbroeck N.M., Hoefsloot L.H., de Wijs I.J., Otten B.J., Hermus A.R., Sistermans E.A.J. Clin. Endocrinol. Metab. 88:3852-3859(2003) [PubMed] [Europe PMC] [Abstract]. Cited for: VARIANTS AH3 ASN-172; LEU-281; ARG-291; TYR-301; PRO-341; TRP-356 AND GLN-483. "Molecular genetic analysis of Tunisian patients with a classic form of 21-hydroxylase deficiency: identification of four novel mutations and high prevalence of Q318X mutation."Kharrat M., Tardy V., M'Rad R., Maazoul F., Jemaa L.B., Refai M., Morel Y., Chaabouni H.J. Clin. Endocrinol. Metab. 89:368-374(2004) [PubMed] [Europe PMC] [Abstract]. Cited for: VARIANTS AH3 ASN-172; TRP-356 AND TRP-483. "Three novel mutations in Japanese patients with 21-hydroxylase deficiency."Usui T., Nishisho K., Kaji M., Ikuno N., Yorifuji T., Yasuda T., Kuzuya H., Shimatsu A.Horm. Res. 61:126-132(2004) [PubMed] [Europe PMC] [Abstract]. Cited for: VARIANT AH3 HIS-124. "Functional analysis of two recurrent amino acid substitutions in the CYP21 gene from Italian patients with congenital adrenal hyperplasia."Barbaro M., Lajic S., Baldazzi L., Balsamo A., Pirazzoli P., Cicognani A., Wedell A., Cacciari E.J. Clin. Endocrinol. Metab. 89:2402-2407(2004) [PubMed] [Europe PMC] [Abstract]. Cited for: VARIANTS AH3 THR-15; LEU-30; LEU-281 AND SER-482, CHARACTERIZATION OF VARIANTS AH3 THR-15 AND SER-482. "Detection and assignment of CYP21 mutations using peptide mass signature genotyping."Zeng X., Witchel S.F., Dobrowolski S.F., Moulder P.V., Jarvik J.W., Telmer C.A.Mol. Genet. Metab. 82:38-47(2004) [PubMed] [Europe PMC] [Abstract]. Cited for: VARIANTS AH3 LEU-30; ASN-172; ASN-236; GLU-237; LYS-239; LEU-281; SER-291; GLN-356; TRP-356; TYR-365; SER-453; LEU-479 AND PRO-483, VARIANT ARG-102. "21-Hydroxylase and 11beta-hydroxylase mutations in Romanian patients with classic congenital adrenal hyperplasia."Grigorescu Sido A., Weber M.M., Grigorescu Sido P., Clausmeyer S., Heinrich U., Schulze E.J. Clin. Endocrinol. Metab. 90:5769-5773(2005) [PubMed] [Europe PMC] [Abstract]. Cited for: VARIANTS AH3 LEU-30; ASN-172 AND TRP-356. "p.H62L, a rare mutation of the CYP21 gene identified in two forms of 21-hydroxylase deficiency."Menassa R., Tardy V., Despert F., Bouvattier-Morel C., Brossier J.P., Cartigny M., Morel Y.J. Clin. Endocrinol. Metab. 93:1901-1908(2008) [PubMed] [Europe PMC] [Abstract]. Cited for: VARIANTS AH3 LEU-30; LEU-62; ASN-172; TRP-356 AND SER-453, CHARACTERIZATION OF VARIANTS AH3 LEU-62 AND SER-453. "Inhibition of CYP21A2 enzyme activity caused by novel missense mutations identified in Brazilian and Scandinavian patients."Soardi F.C., Barbaro M., Lau I.F., Lemos-Marini S.H., Baptista M.T., Guerra-Junior G., Wedell A., Lajic S., de Mello M.P.J. Clin. Endocrinol. Metab. 93:2416-2420(2008) [PubMed] [Europe PMC] [Abstract]. Cited for: VARIANTS AH3 ARG-56; LEU-62; ARG-107; PRO-142; ASN-172; TRP-356; CYS-408 AND SER-453, CHARACTERIZATION OF VARIANTS AH3 ARG-56; LEU-62; ARG-107; PRO-142; CYS-408 AND SER-453. "Functional and structural consequences of a novel point mutation in the CYP21A2 gene causing congenital adrenal hyperplasia: potential relevance of helix C for P450 oxidoreductase-21-hydroxylase interaction."Riepe F.G., Hiort O., Grotzinger J., Sippell W.G., Krone N., Holterhus P.M.J. Clin. Endocrinol. Metab. 93:2891-2895(2008) [PubMed] [Europe PMC] [Abstract]. Cited for: VARIANTS AH3 GLN-121 AND SER-453, CHARACTERIZATION OF VARIANT AH3 GLN-121. "Phenotype-genotype correlations of 13 rare CYP21A2 mutations detected in 46 patients affected with 21-hydroxylase deficiency and in one carrier."Tardy V., Menassa R., Sulmont V., Lienhardt-Roussie A., Lecointre C., Brauner R., David M., Morel Y.J. Clin. Endocrinol. Metab. 95:1288-1300(2010) [PubMed] [Europe PMC] [Abstract]. Cited for: VARIANTS AH3 THR-77; PRO-167; ASN-172; THR-230; LYS-233; LEU-281; SER-291; ASP-292; LYS-320; PRO-341; HIS-354; TRP-356; TRP-369; CYS-408; SER-424; HIS-426 AND SER-453, CHARACTERIZATION OF VARIANTS AH3 PRO-167; ASN-172; LEU-281; ASP-292; LYS-320; TRP-369 AND SER-424.
 Research Articles on CYP21A2    1. Mutations of CYP21A2 including IVS2-13A/C>G, Arg356Trp and Arg149Pro were associated with congenital adrenal hyperplasia due to 21 hydroxylase deficiency.
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 Searchable Name for CYP21A2    anti-CYP21A2; Buy anti-CYP21A2 antibody ($290), Rabbit anti-Human Cytochrome P450 21A2 Antibody (MBS856347) product datasheet at MyBioSource, Primary Antibodies. Application: Western Blot (WB), ELISA (EIA); Cancer; Cardiovascular; Cell Biology; Epigenetics & Nuclear Signaling; Developmental Biologys; Immunology; Drug Discovery Products; Metabolism; Neuroscience; Signal Transduction; Stem Cells; Autophagy antibody; 1589; CP21A_HUMAN; anti-CYP21A2 antibody; anti-CYP21A2
 Precautions    This product is for research use only. Not for use in diagnostic or therapeutic procedures.
 Disclaimer    While every efforts were made to ensure the accuracy of the information provided in this datasheet, MyBioSource will not be liable for any omissions or errors contained herein. MyBioSource reserves the right to make changes to this datasheet at any time without prior notice.
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 Reference Product  PubMed Publications
 POMC antibody  >25 publications with CYP21A2 and POMC
 HSD3B2 antibody  >10 publications with CYP21A2 and HSD3B2
 TNX antibody  >5 publications with CYP21A2 and TNX
 Products by Pathway  Pathway Diagram
 Biological Oxidations Pathway antibodies  Biological Oxidations Pathway Diagram
 C21-Steroid Hormone Biosynthesis, Progesterone => Corticosterone/aldosterone Pathway antibodies  C21-Steroid Hormone Biosynthesis, Progesterone => Corticosterone/aldosterone Pathway Diagram
 C21-Steroid Hormone Biosynthesis, Progesterone => Corticosterone/aldosterone Pathway antibodies  C21-Steroid Hormone Biosynthesis, Progesterone => Corticosterone/aldosterone Pathway Diagram
 C21-Steroid Hormone Biosynthesis, Progesterone => Cortisol/cortisone Pathway antibodies  C21-Steroid Hormone Biosynthesis, Progesterone => Cortisol/cortisone Pathway Diagram
 C21-Steroid Hormone Biosynthesis, Progesterone => Cortisol/cortisone Pathway antibodies  C21-Steroid Hormone Biosynthesis, Progesterone => Cortisol/cortisone Pathway Diagram
 Corticotropin-releasing Hormone Pathway antibodies  Corticotropin-releasing Hormone Pathway Diagram
 Cytochrome P450 - Arranged By Substrate Type Pathway antibodies  Cytochrome P450 - Arranged By Substrate Type Pathway Diagram
 Endogenous Sterols Pathway antibodies  Endogenous Sterols Pathway Diagram
 Glucocorticoid & Mineralcorticoid Metabolism Pathway antibodies  Glucocorticoid & Mineralcorticoid Metabolism Pathway Diagram
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Diseases associated with anti-CYP21A2 antibodyOrgans/Tissues associated with anti-CYP21A2 antibody
 Disease Name  Pubmed Publications
 Hyperplasia Antibodies  >283 publications with CYP21A2 and Hyperplasia
 Adrenal Hyperplasia, Congenital Antibodies  >281 publications with CYP21A2 and Adrenal Hyperplasia, Congenital
 Congenital adrenal hyperplasia due to 21 hydroxylase deficiency Antibodies  >63 publications with CYP21A2 and Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
 Cardiovascular Diseases Antibodies  >17 publications with CYP21A2 and Cardiovascular Diseases
 Mental Disorders Antibodies  >10 publications with CYP21A2 and Mental Disorders
 Obesity Antibodies  >8 publications with CYP21A2 and Obesity
 Pregnancy Complications Antibodies  >8 publications with CYP21A2 and Pregnancy Complications
 Adenoma Antibodies  >7 publications with CYP21A2 and Adenoma
 Brain Diseases Antibodies  >7 publications with CYP21A2 and Brain Diseases
 Heart Diseases Antibodies  >6 publications with CYP21A2 and Heart Diseases
 Organ/Tissue Name  Pubmed Publications
 Adrenal Gland Antibodies  >34 publications with CYP21A2 and Adrenal Gland
 Ovary Antibodies  >11 publications with CYP21A2 and Ovary
 Testis Antibodies  >8 publications with CYP21A2 and Testis
 Liver Antibodies  >8 publications with CYP21A2 and Liver
 Brain Antibodies  >7 publications with CYP21A2 and Brain
 Heart Antibodies  >6 publications with CYP21A2 and Heart
 Eye Antibodies  >2 publications with CYP21A2 and Eye
 Muscle Antibodies  >2 publications with CYP21A2 and Muscle
 Spleen Antibodies  >1 publications with CYP21A2 and Spleen
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