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Genetics Home Reference: your guide to understanding genetic conditions
http://ghr.nlm.nih.gov/     A service of the U.S. National Library of Medicine®

PCDH15

The information on this page was automatically extracted from online scientific databases.

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?

From NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/65217):

This gene is a member of the cadherin superfamily. Family members encode integral membrane proteins that mediate calcium-dependent cell-cell adhesion. It plays an essential role in maintenance of normal retinal and cochlear function. Mutations in this gene result in hearing loss and Usher Syndrome Type IF (USH1F). Extensive alternative splicing resulting in multiple isoforms has been observed in the mouse ortholog. Similar alternatively spliced transcripts are inferred to occur in human, and additional variants are likely to occur. [provided by RefSeq, Dec 2008]

From UniProt (PCD15_HUMAN) (http://www.uniprot.org/uniprot/Q96QU1):

Calcium-dependent cell-adhesion protein. Essential for maintenance of normal retinal and cochlear function.

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

Genetics Home Reference provides information about these conditions associated with changes in the PCDH15 gene:
  • nonsyndromic hearing loss
  • Usher syndrome
UniProt (PCD15_HUMAN) (http://www.uniprot.org/uniprot/Q96QU1) provides the following information about the PCDH15 gene's known or predicted involvement in human disease.

Usher syndrome 1F (USH1F): USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH1 is characterized by profound congenital sensorineural deafness, absent vestibular function and prepubertal onset of progressive retinitis pigmentosa leading to blindness. The disease is caused by mutations affecting the gene represented in this entry.

Usher syndrome 1D/F (USH1DF): USH1DF patients are heterozygous for mutations in CDH23 and PCDH15, indicating a digenic inheritance pattern. The disease is caused by mutations affecting distinct genetic loci, including the gene represented in this entry.

Deafness, autosomal recessive, 23 (DFNB23): A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. The disease is caused by mutations affecting the gene represented in this entry.

NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/65217) lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the PCDH15 gene.
  • Deafness, autosomal recessive 23
  • Usher syndrome, type 1D
  • Usher syndrome, type 1F
OMIM.org (http://omim.org/), a catalog designed for genetics professionals and researchers, provides the following information about the PCDH15 gene and its association with health conditions.
OMIM
Number
Title

Where is the PCDH15 gene located?

Cytogenetic Location: 10q21.1

Molecular Location on chromosome 10: base pairs 53,802,771 to 54,801,291

(Homo sapiens Annotation Release 107, GRCh38.p2) (NCBI (http://www.ncbi.nlm.nih.gov/gene/65217))

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 53,802,771 to base pair 54,801,291 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
  • USH1F

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?

alternative splicing ; auditory ; autosomal ; autosomal recessive ; calcium ; cell ; cell adhesion ; congenital ; gene ; heterozygous ; inheritance ; inheritance pattern ; isoforms ; mediate ; protein ; recessive ; sensorineural ; sensorineural hearing loss ; splicing ; syndrome

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

 

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.

 
Published: February 8, 2016