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NSDHL cdna clone

Scan QR to view Datasheet Catalog #    MBS1274623 NSDHL cdna clone
Unit / Price
0.01 mg Plasmid + 0.2 mL Glycerol-Stock  /  $165 +1 FREE 8GB USB
 
 Go to:   rightarrow  Product Names   rightarrow Product Info   rightarrow Accession #s   rightarrow Product Desc   rightarrow Diseases/Tissues/Pathways   rightarrow Applications   rightarrow References 
 Product Name   

NSDHL, cDNA Clone

 Also Known As   

NSDHL cDNA Clone

 Product Gene Name   

NSDHL cdna clone

[Similar Products]
 Research Use Only    For Research Use Only. Not for use in diagnostic procedures.
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 Molecular Biology Protocol    Molecular Biology Protocol
 Frequently Asked Questions    Frequently Asked Questions
 Sequence    atggaaccag cagttagcga gccaatgaga gaccaagtcg cacggactca tttgacagag gacactccca aagtgaatgc tgacatagaa aaggttaacc agaatcaggc caagagatgc acagtgatcg ggggctctgg attcctgggg cagcacatgg tggagcagtt gctggcaaga ggatatgctg tcaatgtatt tgatatccag caagggtttg ataatcccca ggtgcggttc tttctgggtg acctctgcag ccgacaggat ctgtacccag ctctgaaagg tgtaaacaca gttttccact gtgcgtcacc cccaccatcc agtaacaaca aggagctctt ttatagagtg aattacattg gcaccaagaa tgtcattgaa acttgcaaag aggctggggt tcagaaactc attttaacca gcagtgccag tgtcatcttt gagggcgtcg atatcaagaa tggaactgaa gaccttccct atgccatgaa acccattgac tactacacag agactaagat cttacaggag agggcagttc tgggcgccaa cgatcctgag aagaatttct taaccacagc catccgccct catggcattt tcggcccaag ggacccgcag ttggtaccca tcctcatcga ggcagccagg aacggcaaga tgaagttcgt gattggaaat gggaagaact tggtggactt cacctttgtg gagaacgtgg tccatggaca catcctggcg gcagagcagc tctcccgaga ctcgacactg ggtgggaagg catttcacat caccaatgat gagcccatcc ctttctggac attcctgtct cgcatcctga caggcctcaa ttatgaggcc cccaagtacc acatccccta ctgggtggcc tactacctgg ccctcctgct atccctgctg gtgatggtga tcagtcctgt catccagctg cagcccacct tcacacccat gcgggtcgca ctggctggca cattccacta ctacagctgc gagagagcca aaaaggccat gggctaccag ccactagtga ccatggatga tgctatggag aggaccgtgc agagctttcg ccacctgcgg agggtcaagt ga
 OMIM    300275
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 Vector    pENTR223.1 or pUC
 Clone Sequence Report    Provided with product shipment
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 ISO Certification    Manufactured in an ISO 9001:2008 Certified Laboratory.
 Other Notes    Small volumes of NSDHL cdna clone vial(s) 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 and additional dry ice fee may apply.
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NCBI/Uniprot data below describe general gene information for NSDHL. It may not necessarily be applicable to this product.
 NCBI GI #    12652968
 NCBI GeneID    50814
 NCBI Accession #    BC000245 [Other Products]
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 UniProt Secondary Accession #    O00344; D3DWT6 [Other Products]
 UniProt Related Accession #    Q15738 [Other Products]
 Molecular Weight    41,900 Da
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 NCBI Official Full Name    Homo sapiens NAD(P) dependent steroid dehydrogenase-like, mRNA
 NCBI Official Synonym Full Names    NAD(P) dependent steroid dehydrogenase-like
 NCBI Official Symbol    NSDHL [Similar Products]
 NCBI Official Synonym Symbols   
H105E3; XAP104; SDR31E1
[Similar Products]
 NCBI Protein Information    sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating
 UniProt Protein Name    Sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating
 UniProt Synonym Protein Names   
Protein H105e3
 UniProt Gene Name    NSDHL [Similar Products]
 UniProt Synonym Gene Names    H105E3 [Similar Products]
 UniProt Entry Name    NSDHL_HUMAN
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 NCBI Summary for NSDHL    The protein encoded by this gene is localized in the endoplasmic reticulum and is involved in cholesterol biosynthesis. Mutations in this gene are associated with CHILD syndrome, which is a X-linked dominant disorder of lipid metabolism with disturbed cholesterol biosynthesis, and typically lethal in males. Alternatively spliced transcript variants with differing 5' UTR have been found for this gene. [provided by RefSeq, Jul 2008]
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 UniProt Comments for NSDHL    NSDHL: Defects in NSDHL are the cause of congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD). CHILD is an X-linked dominant disorder of lipid metabolism with disturbed cholesterol biosynthesis, which typically results in male lethality. Clinically, it is characterized by congenital, unilateral, ichthyosisform erythroderma with striking lateralization, sharp midline demarcation, and ipsilateral limb defects and hypoplasia of the body. Limbs defects range from hypoplasia of digits or ribs to complete amelia, often including scoliosis. Defects in NSDHL are the cause of CK syndrome (CKS). CKS is a disorder characterized by mild to severe cognitive impairment, seizures, microcephaly, cerebral cortical malformations, dysmorphic facial features, and thin body habitus. Belongs to the 3-beta-HSD family.

Protein type: Membrane protein, integral; Lipid Metabolism - steroid biosynthesis; Oxidoreductase; Endoplasmic reticulum; EC 1.1.1.170

Chromosomal Location of Human Ortholog: Xq28

Cellular Component: endoplasmic reticulum; endoplasmic reticulum membrane; intracellular membrane-bound organelle; lipid particle

Molecular Function: C-3 sterol dehydrogenase (C-4 sterol decarboxylase) activity

Biological Process: cholesterol biosynthetic process

Disease: Ck Syndrome; Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
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 Research Articles on NSDHL    1. Our findings expand the spectrum of mutations in NSDHL in CHILD syndrome, and indicate that large exon deletions may be not rare.
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 Precautions    All of MyBioSource's Products are for scientific laboratory research purposes and are not for diagnostic, therapeutics, prophylactic or in vivo use. Through your purchase, you expressly represent and warrant to MyBioSource that you will properly test and use any Products purchased from MyBioSource in accordance with industry standards. MyBioSource and its authorized distributors reserve the right to refuse to process any order where we reasonably believe that the intended use will fall outside of our acceptable guidelines.
 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.

It is the responsibility of the customer to report product performance issues to MyBioSource within 30 days of receipt of the product. Please visit our Terms & Conditions page for more information.
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Pathways associated with NSDHL cdna cloneDiseases associated with NSDHL cdna clone
 Products by Pathway  Pathway Diagram
 Cholesterol Biosynthesis Pathway antibodies  Cholesterol Biosynthesis Pathway Diagram
 Cholesterol Biosynthesis Pathway antibodies  Cholesterol Biosynthesis Pathway Diagram
 Cholesterol Biosynthesis, Squalene 2,3-epoxide => Cholesterol Pathway antibodies  Cholesterol Biosynthesis, Squalene 2,3-epoxide => Cholesterol Pathway Diagram
 Cholesterol Biosynthesis, Squalene 2,3-epoxide => Cholesterol Pathway antibodies  Cholesterol Biosynthesis, Squalene 2,3-epoxide => Cholesterol Pathway Diagram
 Metabolism Pathway antibodies  Metabolism Pathway Diagram
 Metabolism Of Lipids And Lipoproteins Pathway antibodies  Metabolism Of Lipids And Lipoproteins Pathway Diagram
 Steroid Biosynthesis Pathway antibodies  Steroid Biosynthesis Pathway Diagram
 Steroid Biosynthesis Pathway antibodies  Steroid Biosynthesis Pathway Diagram
 Cholesterol Biosynthesis I Pathway antibodies  Cholesterol Biosynthesis I Pathway Diagram
 Cholesterol Biosynthesis I Pathway antibodies  Cholesterol Biosynthesis I Pathway Diagram
 Disease Name  Pubmed Publications
 Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects Antibodies  >5 publications with NSDHL and Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects
 Heart Defects, Congenital Antibodies  >4 publications with NSDHL and Heart Defects, Congenital
 CK SYNDROME Antibodies  >3 publications with NSDHL and CK SYNDROME
 Kidney Diseases Antibodies  >2 publications with NSDHL and Kidney Diseases
 Disease Models, Animal Antibodies  >2 publications with NSDHL and Disease Models, Animal
 Atrophy Antibodies  >1 publications with NSDHL and Atrophy
 Mental Disorders Antibodies  >1 publications with NSDHL and Mental Disorders
 Dyslipidemias Antibodies  >1 publications with NSDHL and Dyslipidemias
 Arteriosclerosis Antibodies  >1 publications with NSDHL and Arteriosclerosis
 Inflammation Antibodies  >1 publications with NSDHL and Inflammation
Organs/Tissues associated with NSDHL cdna clone
 Organ/Tissue Name  Pubmed Publications
 Skin Antibodies  >16 publications with NSDHL and Skin
 Brain Antibodies  >9 publications with NSDHL and Brain
 Blood Antibodies  >6 publications with NSDHL and Blood
 Heart Antibodies  >4 publications with NSDHL and Heart
 Lung Antibodies  >3 publications with NSDHL and Lung
 Kidney Antibodies  >3 publications with NSDHL and Kidney
 Placenta Antibodies  >3 publications with NSDHL and Placenta
 Embryonic Tissue Antibodies  >3 publications with NSDHL and Embryonic Tissue
 Liver Antibodies  >2 publications with NSDHL and Liver
 Bone Antibodies  >2 publications with NSDHL and Bone
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