Protocadherin-15 is a
protein that in humans is encoded by the PCDH15gene.[5][6][7]
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.[7] It is thought to interact with
CDH23 to form
tip-link filaments.[8]
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.[7] Variation within it has also been found to be associated with normal differences in human facial appearance.[9]
Ouyang XM, Yan D, Du LL, Hejtmancik JF, Jacobson SG, Nance WE, et al. (March 2005). "Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population". Human Genetics. 116 (4): 292–9.
doi:
10.1007/s00439-004-1227-2.
PMID15660226.
S2CID22812718.
Protocadherin-15 is a
protein that in humans is encoded by the PCDH15gene.[5][6][7]
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.[7] It is thought to interact with
CDH23 to form
tip-link filaments.[8]
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.[7] Variation within it has also been found to be associated with normal differences in human facial appearance.[9]
Ouyang XM, Yan D, Du LL, Hejtmancik JF, Jacobson SG, Nance WE, et al. (March 2005). "Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population". Human Genetics. 116 (4): 292–9.
doi:
10.1007/s00439-004-1227-2.
PMID15660226.
S2CID22812718.