protocadherin related 15
The information on this page was automatically extracted from online scientific databases.
From NCBI Gene:
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]
Calcium-dependent cell-adhesion protein. Essential for maintenance of normal retinal and cochlear function.
Covered on Genetics Home Reference:
From NCBI Gene:
- Usher syndrome type 1D
- Deafness, autosomal recessive 23
- Usher syndrome type 1F
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. [MIM:602083]
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. [MIM:609533]
Usher syndrome 1D/F (USH1DF): USH1DF patients are heterozygous for mutations in CDH23 and PCDH15, indicating a digenic inheritance pattern. [MIM:601067]