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Genetics Home Reference: your guide to understanding genetic conditions
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PCDH15

Reviewed February 2007

What is the official name of the PCDH15 gene?

The official name of this gene is “protocadherin-related 15.”

PCDH15 is the gene's official symbol. The PCDH15 gene is also known by other names, listed below.

What is the normal function of the PCDH15 gene?

The PCDH15 gene provides instructions for making a protein called protocadherin 15, a type of protein that helps cells stick together. Protocadherin 15 is made in the inner ear and in specialized cells in the eye that detect light and color (retinal photoreceptors), as well as in other tissues. This protein interacts with other proteins in the cell membrane to carry out its normal role in cell attachment.

In the inner ear, protocadherin 15 probably plays a role in the development and maintenance of hairlike projections called stereocilia. Stereocilia line the inner ear and bend in response to sound waves. This bending motion is critical for converting sound waves to nerve impulses, which is an essential process for normal hearing.

The exact function of protocadherin 15 in the retina has not been determined, but it probably plays a role in the development and maintenance of specialized photoreceptor cells that detect light and color.

Does the PCDH15 gene share characteristics with other genes?

The PCDH15 gene belongs to a family of genes called CDH (cadherins).

A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) in the Handbook.

How are changes in the PCDH15 gene related to health conditions?

nonsyndromic deafness - caused by mutations in the PCDH15 gene

Researchers have identified a few mutations in the PCDH15 gene that cause a form of nonsyndromic deafness (hearing loss without related signs and symptoms affecting other parts of the body) called DFNB23. These mutations lead to changes in single protein building blocks (amino acids) in the protocadherin 15 protein, which alter its normal structure and function. Deafness most likely results from the improper development of stereocilia in the inner ear.

Usher syndrome - caused by mutations in the PCDH15 gene

At least nine mutations that cause Usher syndrome type 1F have been identified in the PCDH15 gene. These mutations result in the production of an abnormally structured or shortened protein that may have little or no function in cells. In the Ashkenazi (eastern and central European) Jewish population, a common mutation replaces the amino acid arginine with a stop signal at position 245 (written as Arg245Ter or R245X) in the protocadherin 15 protein. As a result, an abnormally small version of the protein is made. This mutation may be the most common cause of Usher syndrome type 1 in this population. Because mutations in protocadherin 15 cause defects in the inner ear and retina, loss of hearing and vision can result.

Where is the PCDH15 gene located?

Cytogenetic Location: 10q21.1

Molecular Location on chromosome 10: base pairs 53,802,770 to 54,801,290

The PCDH15 gene is located on the long (q) arm of chromosome 10 at position 21.1.

The PCDH15 gene is located on the long (q) arm of chromosome 10 at position 21.1.

More precisely, the PCDH15 gene is located from base pair 53,802,770 to base pair 54,801,290 on chromosome 10.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about PCDH15?

You and your healthcare professional may find the following resources about PCDH15 helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the PCDH15 gene or gene products?

  • CDHR15
  • DFNB23
  • PCD15_HUMAN
  • Pcdh15 protein
  • protocadherin 15
  • USH1F
  • Usher syndrome 1F (autosomal recessive, severe)

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding PCDH15?

acids ; amino acid ; arginine ; autosomal ; autosomal recessive ; cell ; cell membrane ; gene ; mutation ; photoreceptor ; population ; protein ; recessive ; retina ; syndrome

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Ahmed ZM, Goodyear R, Riazuddin S, Lagziel A, Legan PK, Behra M, Burgess SM, Lilley KS, Wilcox ER, Riazuddin S, Griffith AJ, Frolenkov GI, Belyantseva IA, Richardson GP, Friedman TB. The tip-link antigen, a protein associated with the transduction complex of sensory hair cells, is protocadherin-15. J Neurosci. 2006 Jun 28;26(26):7022-34. (http://www.ncbi.nlm.nih.gov/pubmed/16807332?dopt=Abstract)
  • Ahmed ZM, Riazuddin S, Ahmad J, Bernstein SL, Guo Y, Sabar MF, Sieving P, Riazuddin S, Griffith AJ, Friedman TB, Belyantseva IA, Wilcox ER. 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. 2003 Dec 15;12(24):3215-23. Epub 2003 Oct 21. (http://www.ncbi.nlm.nih.gov/pubmed/14570705?dopt=Abstract)
  • Ahmed ZM, Riazuddin S, Bernstein SL, Ahmed Z, Khan S, Griffith AJ, Morell RJ, Friedman TB, Riazuddin S, Wilcox ER. Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F. Am J Hum Genet. 2001 Jul;69(1):25-34. Epub 2001 Jun 7. (http://www.ncbi.nlm.nih.gov/pubmed/11398101?dopt=Abstract)
  • Ahmed ZM, Riazuddin S, Riazuddin S, Wilcox ER. The molecular genetics of Usher syndrome. Clin Genet. 2003 Jun;63(6):431-44. Review. (http://www.ncbi.nlm.nih.gov/pubmed/12786748?dopt=Abstract)
  • Alagramam KN, Yuan H, Kuehn MH, Murcia CL, Wayne S, Srisailpathy CR, Lowry RB, Knaus R, Van Laer L, Bernier FP, Schwartz S, Lee C, Morton CC, Mullins RF, Ramesh A, Van Camp G, Hageman GS, Woychik RP, Smith RJ. Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F. Hum Mol Genet. 2001 Aug 1;10(16):1709-18. Erratum in: Hum Mol Genet 2001 Oct 15;10(22):2603. Hagemen GS [corrected to Hageman GS]. (http://www.ncbi.nlm.nih.gov/pubmed/11487575?dopt=Abstract)
  • Ben-Yosef T, Ness SL, Madeo AC, Bar-Lev A, Wolfman JH, Ahmed ZM, Desnick RJ, Willner JP, Avraham KB, Ostrer H, Oddoux C, Griffith AJ, Friedman TB. A mutation of PCDH15 among Ashkenazi Jews with the type 1 Usher syndrome. N Engl J Med. 2003 Apr 24;348(17):1664-70. (http://www.ncbi.nlm.nih.gov/pubmed/12711741?dopt=Abstract)
  • Brownstein Z, Ben-Yosef T, Dagan O, Frydman M, Abeliovich D, Sagi M, Abraham FA, Taitelbaum-Swead R, Shohat M, Hildesheimer M, Friedman TB, Avraham KB. The R245X mutation of PCDH15 in Ashkenazi Jewish children diagnosed with nonsyndromic hearing loss foreshadows retinitis pigmentosa. Pediatr Res. 2004 Jun;55(6):995-1000. Epub 2004 Mar 17. (http://www.ncbi.nlm.nih.gov/pubmed/15028842?dopt=Abstract)
  • Finsterer J, Fellinger J. Nuclear and mitochondrial genes mutated in nonsyndromic impaired hearing. Int J Pediatr Otorhinolaryngol. 2005 May;69(5):621-47. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15850684?dopt=Abstract)
  • Keats BJ, Savas S. Genetic heterogeneity in Usher syndrome. Am J Med Genet A. 2004 Sep 15;130A(1):13-6. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15368488?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/65217)
  • Reiners J, Märker T, Jürgens K, Reidel B, Wolfrum U. Photoreceptor expression of the Usher syndrome type 1 protein protocadherin 15 (USH1F) and its interaction with the scaffold protein harmonin (USH1C). Mol Vis. 2005 May 12;11:347-55. (http://www.ncbi.nlm.nih.gov/pubmed/15928608?dopt=Abstract)
  • Reiners J, Nagel-Wolfrum K, Jürgens K, Märker T, Wolfrum U. Molecular basis of human Usher syndrome: deciphering the meshes of the Usher protein network provides insights into the pathomechanisms of the Usher disease. Exp Eye Res. 2006 Jul;83(1):97-119. Epub 2006 Mar 20. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16545802?dopt=Abstract)
  • Senften M, Schwander M, Kazmierczak P, Lillo C, Shin JB, Hasson T, Géléoc GS, Gillespie PG, Williams D, Holt JR, Müller U. Physical and functional interaction between protocadherin 15 and myosin VIIa in mechanosensory hair cells. J Neurosci. 2006 Feb 15;26(7):2060-71. (http://www.ncbi.nlm.nih.gov/pubmed/16481439?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: February 2007
Published: July 28, 2014