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Rabbit Anti-NPHP3 Antibody (CSB-PA768767ESR2HU)
Supplier: CUSABIO BIOTECH CO.
Nephrocystin-3 Antibody,NPHP3 Antibody,KIAA2000 AntibodyMore alternative names for the antibody
Meckel syndrome, type 7 antibody|MKS7 antibody|Nephrocystin-3 antibody|nephronophthisis 3 (adolescent) antibody|NPH3 antibody|Nphp3 antibody|NPHP3_HUMAN antibody|pcy antibody|RHPD antibody
Anti-NPHP3 antibody (ab121305)
Anti-NPHP3 antibody (ab121305)
Recommended applications: ELISA, IHC
Recommended dilution: Recommended dilution:IHC:1:20-1:200
Recommended protocols: check protocols
|Catalogue No.|| |
Recombinant human Nephrocystin-3 protein (1-130AA)
|Recommended dilution|| |
|Molecular weight|| |
Antigen Affinity Purified
Shipped at 4 Celcius Degree. Upon delivery aliquot and store at -20 Celcius Degree or -80 Celcius Degree. Avoid repeated freeze.
|Database links|| |
<a href="http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=27031" target="_blank">Entrez Gene:27031( Human)</a>, <a href="http://www.ncbi.nlm.nih.gov/omim/608002" target="_blank">Omim:608002( Human)</a>, <a href="http://www.uniprot.org/uniprot/Q7Z494" target="_blank">SwissProt:Q7Z494( Human)</a>, <a href="http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=511991" target="_blank">Unigene:511991( Human)</a>
|Protein function|| |
Required for normal ciliary development and function. Inhibits disheveled-1-induced canonical Wnt-signaling activity and may also play a role in the control of non-canonical Wnt signaling which regulates planar cell polarity. Probably acts as a molecular switch between different Wnt signaling pathways. Required for proper convergent extension cell movements. .
|Protein tissue specificity|| |
Widely expressed at low level. Expressed in heart, placenta, liver, skeletal muscle, kidney and pancreas. Expressed at very low level in brain and lung. .
|Involvement in disease|| |
Nephronophthisis 3 (NPHP3) [MIM:604387]: An autosomal recessive disorder resulting in end-stage renal disease. It is characterized by polyuria, polydipsia, anemia. Onset of terminal renal failure occurr significantly later (median age, 19 years) than in juvenile nephronophthisis. Renal pathology is characterized by alterations of tubular basement membranes, tubular atrophy and dilation, sclerosing tubulointerstitial nephropathy, and renal cyst development predominantly at the corticomedullary junction. . Note=The disease is caused by mutations affecting the gene represented in this entry.; Renal-hepatic-pancreatic dysplasia 1 (RHPD1) [MIM:208540]: A disease characterized by cystic malformations of the kidneys, liver, and pancreas. The pathological findings consist of multicystic dysplastic kidneys, dilated and dysgenetic bile ducts, a dysplastic pancreas with dilated ducts, cysts, fibrosis and inflammatory infiltrates. . Note=The disease is caused by mutations affecting the gene represented in this entry.; Meckel syndrome 7 (MKS7) [MIM:267010]: A disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly. . Note=The disease is caused by mutations affecting the gene represented in this entry.
|Protein cellular localization|| |
Cell projection, cilium . Note=Localization to cilium is mediated via interaction with UNC119 and UNC119B, which bind to the myristoyl moiety of the N-terminus.
|Research area|| |
<a href="https://antibodyplus.com/research-areas/">All research areas</a>><a href="https://antibodyplus.com/Signaling-Intermediates/">Signaling Intermediates</a>><a href="https://antibodyplus.com/product-tag/nephrocystin/">nephrocystin</a><br><a href="https://antibodyplus.com/product-tag/Signaling-Intermediates/"> (View all antibody categories related to Signaling Intermediates)</a>
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CUSABIO BIOTECH CO.
|Product type|| |
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