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TRPV3

TRPV3

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

What is the official name of the TRPV3 gene?

The official name of this gene is “transient receptor potential cation channel, subfamily V, member 3.”

TRPV3 is the gene's official symbol. The TRPV3 gene is also known by other names, listed below.

Read more about gene names and symbols on the About page.

What is the normal function of the TRPV3 gene?

From NCBI GeneThis link leads to a site outside Genetics Home Reference.:

This gene product belongs to a family of nonselective cation channels that function in a variety of processes, including temperature sensation and vasoregulation. The thermosensitive members of this family are expressed in subsets of sensory neurons that terminate in the skin, and are activated at distinct physiological temperatures. This channel is activated at temperatures between 22 and 40 degrees C. This gene lies in close proximity to another family member gene on chromosome 17, and the two encoded proteins are thought to associate with each other to form heteromeric channels. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]

From UniProtThis link leads to a site outside Genetics Home Reference.:

Putative receptor-activated non-selective calcium permeant cation channel. It is activated by innocuous (warm) temperatures and shows an increased response at noxious temperatures greater than 39 degrees Celsius. Activation exhibits an outward rectification. May associate with TRPV1 and may modulate its activity. Is a negative regulator of hair growth and cycling: TRPV3-coupled signaling suppresses keratinocyte proliferation in hair follicles and induces apoptosis and premature hair follicle regression (catagen).

How are changes in the TRPV3 gene related to health conditions?

UniProtThis link leads to a site outside Genetics Home Reference. provides the following information about the TRPV3 gene's known or predicted involvement in human disease.

Olmsted syndrome (OLMS): A rare congenital disorder characterized by bilateral mutilating palmoplantar keratoderma and periorificial keratotic plaques with severe itching at all lesions. Diffuse alopecia, constriction of digits, and onychodystrophy have also been reported. Infections and squamous cell carcinomas can arise on the keratotic areas. The digital constriction may progress to autoamputation of fingers and toes. The disease is caused by mutations affecting the gene represented in this entry.

NCBI GeneThis link leads to a site outside Genetics Home Reference. lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the TRPV3 gene.
  • PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL 2
  • Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques
OMIM.orgThis link leads to a site outside Genetics Home Reference., a catalog designed for genetics professionals and researchers, provides the following information about the TRPV3 gene and its association with health conditions.
OMIM
Number
Title

Where is the TRPV3 gene located?

Cytogenetic Location: 17p13.2

Molecular Location on chromosome 17: base pairs 3,510,501 to 3,557,994

The TRPV3 gene is located on the short (p) arm of chromosome 17 at position 13.2.

The TRPV3 gene is located on the short (p) arm of chromosome 17 at position 13.2.

More precisely, the TRPV3 gene is located from base pair 3,510,501 to base pair 3,557,994 on chromosome 17.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about TRPV3?

You and your healthcare professional may find the following resources about TRPV3 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 TRPV3 gene or gene products?

  • FNEPPK2
  • OLMS
  • VRL3

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding TRPV3?

alopecia ; apoptosis ; bilateral ; calcium ; cation ; cell ; channel ; chromosome ; congenital ; expressed ; gene ; gene product ; hair follicle ; isoforms ; keratinocyte ; keratoderma ; palmoplantar keratoderma ; proliferation ; receptor ; regression ; syndrome ; transcript

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

See also Understanding Medical Terminology.

 

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? in the Handbook.

 
Published: July 27, 2015