PCDH15
Lua error in Module:Infobox_gene at line 33: attempt to index field 'wikibase' (a nil value). Protocadherin-15 is a protein that in humans is encoded by the PCDH15 gene.[1][2][3]
Function
This gene is a member of the cadherin superfamily. Family members encode integral membrane proteins that mediate calcium-dependent cell-cell adhesion. The protein product of this gene consists of a signal peptide, 11 extracellular calcium-binding domains, a transmembrane domain and a unique cytoplasmic domain. It plays an essential role in maintenance of normal retinal and cochlear function.[3] It is thought to interact with CDH23 to form tip-link filaments.[4]
Clinical significance
Mutations in this gene have been associated with hearing loss, which is consistent with its location at the Usher syndrome type 1F (USH1F) critical region on chromosome 10.[3]
References
Further reading
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External links
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