PCDH15

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
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RefSeq (mRNA)

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RefSeq (protein)

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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] Variation within it has also been found to be associated with normal differences in human facial appearance.[5]

References

  1. Ahmed ZM, Riazuddin S, Bernstein SL, Ahmed Z, Khan S, Griffith AJ, Morell RJ, Friedman TB, Riazuddin S, Wilcox ER (Jun 2001). "Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F". Am J Hum Genet. 69 (1): 25–34. doi:10.1086/321277. PMC 1226045. PMID 11398101.
  2. Ahmed ZM, Riazuddin S, Ahmad J, Bernstein SL, Guo Y, Sabar MF, Sieving P, Riazuddin S, Griffith AJ, Friedman TB, Belyantseva IA, Wilcox ER (Dec 2003). "PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23". Hum Mol Genet. 12 (24): 3215–23. doi:10.1093/hmg/ddg358. PMID 14570705.
  3. 3.0 3.1 3.2 "Entrez Gene: PCDH15 protocadherin 15".
  4. Kazmierczak, Piotr; Sakaguchi, Hirofumi; Tokita, Joshua; Wilson-Kubalek, Elizabeth M.; Milligan, Ronald A.; Müller, Ulrich; Kachar, Bechara (2007). "Cadherin 23 and protocadherin 15 interact to form tip-link filaments in sensory hair cells". Nature. 449 (7158): 87–91. doi:10.1038/nature06091. PMID 17805295.
  5. http://www.pnas.org/content/115/4/E676.short

Further reading

External links



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