PCDH15

PCDH15 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.

Full Name

Protocadherin Related 15

Function

Calcium-dependent cell-adhesion protein. Essential for maintenance of normal retinal and cochlear function.

Biological Process

Cell adhesionManual Assertion Based On ExperimentIBA:GO_Central
EquilibrioceptionManual Assertion Based On ExperimentIMP:HGNC-UCL
Homophilic cell adhesion via plasma membrane adhesion moleculesIEA:InterPro
Inner ear developmentIEA:InterPro
Photoreceptor cell maintenanceManual Assertion Based On ExperimentIMP:HGNC-UCL
Sensory perception of light stimulusManual Assertion Based On ExperimentIMP:HGNC-UCL
Sensory perception of soundManual Assertion Based On ExperimentIMP:HGNC-UCL

Cellular Location

Cell membrane
Efficient localization to the plasma membrane requires the presence of LHFPL5.
Isoform 3
Secreted

Involvement in disease

Usher syndrome 1F (USH1F):
USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH1 is characterized by profound congenital sensorineural deafness, absent vestibular function and prepubertal onset of progressive retinitis pigmentosa leading to blindness.
Usher syndrome 1D/F (USH1DF):
USH1DF patients are heterozygous for mutations in CDH23 and PCDH15, indicating a digenic inheritance pattern.
Deafness, autosomal recessive, 23 (DFNB23):
A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.

Topology

Extracellular: 27-1376
Helical: 1377-1397
Cytoplasmic: 1398-1955