PCDH15

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]

Description

Protocadherin related 15

Tissue specificity

Group enriched (adrenal gland, brain, retina)

Predicted location

Intracellular, Membrane

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Plasma proteins
Predicted intracellular proteins
Predicted membrane proteins
Protein evidence (Kim et al 2014)

Chromosome

10 (53802771 - 55627942)

Ensembl ID

ENSG00000150275  (ver. 103.38)

Orthologs

Mouse Pcdh15: ENSMUSG00000052613

UniProt

Q96QU1

neXtProt

NX_Q96QU1

Human splice variants
Mouse splice variants

Protein structure