PCDH15

Name

protocadherin related 15

Type

protein-coding

Position

53,802,771–55,627,942 (−)

Aliases

CDHR15, DFNB23, USH1F

Ensembl

ENSG00000150275

RefSeq RNA

NM_001142763.2, NM_001142764.2, NM_001142765.2, NM_001142766.2, NM_001142767.2

RefSeq protein

NP_001136235.1, NP_001136236.1, NP_001136237.1, NP_001136238.1, NP_001136239.1

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. [provided by RefSeq, Dec 2008].

via MyGene.info

Wikidata facts

via Wikidata · CC0