PCDH15

PCDH15

PCDH15

Protein-coding gene in the species Homo sapiens

Protocadherin-15 is a protein that in humans is encoded by the PCDH15 gene.[5][6][7]

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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]

References

  1. [1]
    GRCh38: Ensembl release 89: ENSG00000150275 – Ensembl, May 2017
  2. [2]
    GRCm38: Ensembl release 89: ENSMUSG00000052613 – Ensembl, May 2017
  3. [3]
    "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. [4]
    "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. [5]
    Ahmed ZM, Riazuddin S, Bernstein SL, Ahmed Z, Khan S, Griffith AJ, et al. (July 2001). "Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F". American Journal of Human Genetics. 69 (1): 25–34. doi:10.1086/321277. PMC 1226045. PMID 11398101.
  6. [6]
    Ahmed ZM, Riazuddin S, Ahmad J, Bernstein SL, Guo Y, Sabar MF, et al. (December 2003). "PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23". Human Molecular Genetics. 12 (24): 3215–23. doi:10.1093/hmg/ddg358. PMID 14570705. S2CID 14028314.
  7. [7]
    "Entrez Gene: PCDH15 protocadherin 15".
  8. [8]
    Kazmierczak P, Sakaguchi H, Tokita J, Wilson-Kubalek EM, Milligan RA, Müller U, Kachar B (September 2007). "Cadherin 23 and protocadherin 15 interact to form tip-link filaments in sensory hair cells". Nature. 449 (7158): 87–91. Bibcode:2007Natur.449...87K. doi:10.1038/nature06091. PMID 17805295. S2CID 4414814.
  9. [9]
    Crouch DJ, Winney B, Koppen WP, Christmas WJ, Hutnik K, Day T, et al. (January 2018). "Genetics of the human face: Identification of large-effect single gene variants". Proceedings of the National Academy of Sciences of the United States of America. 115 (4): E676–E685. Bibcode:2018PNAS..115E.676C. doi:10.1073/pnas.1708207114. PMC 5789906. PMID 29301965.

Further reading

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