Recombinant Human Protocadherin-15 (PCDH15), Truncated

Uniprot Id

Q96QU1

Target Species

Human

Target Name

PCDH15

Target Full Name

Protocadherin-15

Target Function

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

Target Involvement

Usher syndrome 1F (USH1F); Usher syndrome 1D/F (USH1DF); Deafness, autosomal recessive, 23 (DFNB23)

Target Subcellular Location

Cell membrane; Single-pass type I membrane protein.; [Isoform 3]: Secreted.

Target Tissue Specificity

Expressed in brain, lung, kidney, spleen and testis. Found also in the inner and outer synaptic layers, and the nerve fiber layer in adult and fetal retinas. Found in the supporting cells, outer sulcus cells and spiral ganglion of fetal cochlea. Expressed

Target Synonyms

PCDH15; USH1F; Protocadherin-15

Target Background

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.