靶标:
Pcdh15
产品别名:
BB078305; Gm9815; Ush1f; av; nmf19; roda; Pcdh15; protocadherin 15; protocadherin 15; protocadherin-15; Ames waltzer; protocadherin 15 CD2; 原钙黏素15(PCDH15);
背景信息:
Protocadherin-15 is a protein that in humans is encoded by the PCDH15 gene. This gene is mapped to 10q21.1. This gene is a member of the cadherin superfamily. Family members encode integral membrane proteins that mediate calcium-dependent cell-cell adhesion. It plays an essential role in maintenance of normal retinal and cochlear function. Mutations in this gene result in hearing loss and Usher Syndrome Type IF (USH1F). Extensive alternative splicing resulting in multiple isoforms has been observed in the mouse ortholog. Similar alternatively spliced transcripts are inferred to occur in human, and additional variants are likely to occur.