Synthesized peptide derived from human NPHP3 AA range: 1092-1142
储存条件:
-20°C/1 year
克隆性:
Polyclonal
抗体亚型:
IgG
浓度:
1 mg/ml
分子量:
146kD
基因ID:
27031
蛋白序列:
Q7Z494
细胞定位:
Cell projection, cilium . Localization to cilium is mediated via interaction with UNC119 and UNC119B, which bind to the myristoyl moiety of the N-terminus.
研究背景:
This gene encodes a protein containing a coiled-coil (CC) domain, a tubulin-tyrosine ligase (TTL) domain, and a tetratrico peptide repeat (TPR) domain. The encoded protein interacts with nephrocystin, it is required for normal ciliary development, and it functions in renal tubular development. Mutations in this gene are associated with nephronophthisis type 3, and also with renal-hepatic-pancreatic dysplasia, and Meckel syndrome type 7. Naturally occurring read-through transcripts exist between this gene and the downstream ACAD11 (acyl-CoA dehydrogenase family, member 11) gene. [provided by RefSeq, Feb 2011],