PCDH15 ELISA Kit for Mouse

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]

PCDH15: Calcium-dependent cell-adhesion protein. Essential for maintenance of normal retinal and cochlear function. Defects in PCDH15 are the cause of Usher syndrome type 1F (USH1F). USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa and 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. Defects in PCDH15 are a cause of Usher syndrome type 1D/F (USH1DF). USH1DF patients are heterozygous for mutations in CDH23 and PCDH15, indicating a digenic inheritance pattern. Defects in PCDH15 are the cause of deafness autosomal recessive type 23 (DFNB23). DFNB23 is a form of 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. 3 isoforms of the human protein are produced by alternative splicing.

Protein type: Cell adhesion; Membrane protein, integral; Cell development/differentiation

Chromosomal Location of Human Ortholog: 10q21.1

Cellular Component: extracellular space; stereocilium; photoreceptor outer segment; plasma membrane; integral to membrane; synapse

Molecular Function: calcium ion binding

Biological Process: sensory perception of sound; sensory perception of light stimulus; photoreceptor cell maintenance; homophilic cell adhesion; equilibrioception

Disease: Usher Syndrome, Type If; Usher Syndrome, Type Id; Deafness, Autosomal Recessive 23