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anti-NPHP4 antibody :: nephronophthisis 4 Polyclonal Antibody

Scan QR to view Datasheet Catalog #    MBS719341 anti-NPHP4 antibody
Unit / Price
0.05 mL  /  $230 +1 FREE 8GB USB
0.15 mL  /  $500 +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   

nephronophthisis 4 (NPHP4), Polyclonal Antibody

 Also Known As   

Rabbit anti-human nephronophthisis 4 polyclonal Antibody

 Product Gene Name   

anti-NPHP4 antibody

[Similar Products]
 Research Use Only    For Research Use Only. Not for use in diagnostic procedures.
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 OMIM    607215
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 Clonality    Polyclonal
 Isotype    IgG
 Species Reactivity    Human, Mouse, Rat
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 Purity/Purification    Antigen Affinity Purified
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 Immunogen    Human NPHP4
 Storage Buffer    PBS with 0.02% Sodium Azide, 50% Glycerol, pH 7.3. -20 degree C, Avoid freeze / thaw cycles.
 Santa Cruz Alternative    Potential replacement for Santa Cruz Biotechnology antibody catalog# sc-49244 / sc-49246 / sc-49247 / sc-99012
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 ISO Certification    Manufactured in an ISO 9001:2008 Certified Laboratory.
 Other Notes    Small volumes of anti-NPHP4 antibody 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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 Applications Tested/Suitable for anti-NPHP4 antibody   

ELISA (EIA), Immunofluorescence (IF)

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NCBI/Uniprot data below describe general gene information for NPHP4. It may not necessarily be applicable to this product.
 NCBI GI #    22770976
 NCBI GeneID    261734
 NCBI Accession #    AAN06814.1 [Other Products]
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 UniProt Secondary Accession #    Q8IWC0 [Other Products]
 UniProt Related Accession #    O75161 [Other Products]
 Molecular Weight    99,953 Da [Similar Products]
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 NCBI Official Full Name    nephronophthisis 4
 NCBI Official Synonym Full Names    nephronophthisis 4
 NCBI Official Symbol    NPHP4 [Similar Products]
 NCBI Official Synonym Symbols   
[Similar Products]
 NCBI Protein Information    nephrocystin-4; nephroretinin; POC10 centriolar protein homolog
 UniProt Protein Name    Nephrocystin-4
 UniProt Synonym Protein Names   
 Protein Family    Nephrocystin
 UniProt Gene Name    NPHP4 [Similar Products]
 UniProt Synonym Gene Names    KIAA0673 [Similar Products]
 UniProt Entry Name    NPHP4_HUMAN
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 NCBI Summary for NPHP4    This gene encodes a protein involved in renal tubular development and function. This protein interacts with nephrocystin, and belongs to a multifunctional complex that is localized to actin- and microtubule-based structures. Mutations in this gene are associated with nephronophthisis type 4, a renal disease, and with Senior-Loken syndrome type 4, a combination of nephronophthisis and retinitis pigmentosa. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]
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 UniProt Comments for NPHP4    NPHP4: Involved in the organization of apical junctions in kidney cells together with NPHP1 and RPGRIP1L/NPHP8. Does not seem to be strictly required for ciliogenesis. Defects in NPHP4 are the cause of nephronophthisis type 4 (NPHP4); also known as familial juvenile nephronophthisis 4. NPHP4 is an autosomal recessive inherited disease resulting in end-stage renal disease at age ranging between 6 and 35 years. It is a progressive tubulo-interstitial kidney disorder characterized by polydipsia, polyuria, anemia and growth retardation. The most prominent histological features are modifications of the tubules with thickening of the basement membrane, interstitial fibrosis and, in the advanced stages, medullary cysts. Ciliary dysfunction leads to a broad spectrum of disorders, collectively termed ciliopathies. Overlapping clinical features include retinal degeneration, renal cystic disease, skeletal abnormalities, fibrosis of various organ, and a complex range of anatomical and functional defects of the central and peripheral nervous system. The ciliopathy range of diseases includes Meckel-Gruber syndrome, Bardet-Biedl syndrome, Joubert syndrome, nephronophtisis, Senior-Loken syndrome, and Jeune asphyxiating thoracic dystrophy among others. Single-locus allelism is insufficient to explain the variable penetrance and expressivity of such disorders, leading to the suggestion that variations across multiple sites of the ciliary proteome, including NPHP4, influence the clinical outcome. Defects in NPHP4 are the cause of Senior-Loken syndrome type 4 (SLSN4). SLSN is a renal-retinal disorder characterized by progressive wasting of the filtering unit of the kidney, with or without medullary cystic renal disease, and progressive eye disease. Typically this disorder becomes apparent during the first year of life. Belongs to the NPHP4 family.

Protein type: Cytoskeletal

Chromosomal Location of Human Ortholog: 1p36

Cellular Component: centrosome; tight junction; membrane; intercellular junction; cytosol; photoreceptor connecting cilium

Molecular Function: protein binding; structural molecule activity

Biological Process: cell-cell adhesion; sperm motility; retina development in camera-type eye; organelle organization and biogenesis; photoreceptor cell maintenance; actin cytoskeleton organization and biogenesis; signal transduction; visual behavior

Disease: Nephronophthisis 4; Senior-loken Syndrome 4
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 Research Articles on NPHP4    1. The ciliary protein nephrocystin-4 translocates the canonical Wnt regulator Jade-1 to the nucleus to negatively regulate beta-catenin signaling.
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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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Products associated with anti-NPHP4 antibodyPathways associated with anti-NPHP4 antibody
 Reference Product  PubMed Publications
 NPHP1 antibody  >33 publications with NPHP4 and NPHP1
 NPHP3 antibody  >12 publications with NPHP4 and NPHP3
 INVS antibody  >10 publications with NPHP4 and INVS
 RPGRIP1L antibody  >7 publications with NPHP4 and RPGRIP1L
 RPGRIP1 antibody  >7 publications with NPHP4 and RPGRIP1
 LATS1 antibody  >1 publications with NPHP4 and LATS1
 Products by Pathway  Pathway Diagram
 Signal Transduction Pathway antibodies  Signal Transduction Pathway Diagram
 Signaling By Hippo Pathway antibodies  Signaling By Hippo Pathway Diagram
Diseases associated with anti-NPHP4 antibodyOrgans/Tissues associated with anti-NPHP4 antibody
 Disease Name  Pubmed Publications
 Kidney Diseases Antibodies  >38 publications with NPHP4 and Kidney Diseases
 Congenital Abnormalities Antibodies  >8 publications with NPHP4 and Congenital Abnormalities
 Senior-Loken syndrome 4 Antibodies  >7 publications with NPHP4 and Senior-Loken syndrome 4
 Nervous System Diseases Antibodies  >4 publications with NPHP4 and Nervous System Diseases
 Liver Diseases Antibodies  >3 publications with NPHP4 and Liver Diseases
 Nephronophthisis 4 Antibodies  >3 publications with NPHP4 and Nephronophthisis 4
 Urogenital Abnormalities Antibodies  >2 publications with NPHP4 and Urogenital Abnormalities
 Disease Models, Animal Antibodies  >2 publications with NPHP4 and Disease Models, Animal
 Nervous System Malformations Antibodies  >2 publications with NPHP4 and Nervous System Malformations
 Neural Tube Defects Antibodies  >2 publications with NPHP4 and Neural Tube Defects
 Organ/Tissue Name  Pubmed Publications
 Kidney Antibodies  >46 publications with NPHP4 and Kidney
 Eye Antibodies  >9 publications with NPHP4 and Eye
 Liver Antibodies  >3 publications with NPHP4 and Liver
 Heart Antibodies  >3 publications with NPHP4 and Heart
 Lung Antibodies  >2 publications with NPHP4 and Lung
 Brain Antibodies  >2 publications with NPHP4 and Brain
 Nerve Antibodies  >1 publications with NPHP4 and Nerve
 Muscle Antibodies  >1 publications with NPHP4 and Muscle
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