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TRPV3 transient receptor potential cation channel subfamily V member 3

Gene ID: 162514, updated on 18-Sep-2024
Gene type: protein coding
Also known as: OLMS; VRL3; OLMS1; FNEPPK2

Summary

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]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
Isolated focal non-epidermolytic palmoplantar keratoderma
MedGen: C4225339OMIM: 616400GeneReviews: Not available
See labs
Olmsted syndrome 1
MedGen: C5542829OMIM: 614594GeneReviews: Not available
See labs

Genomic context

Location:
17p13.2
Sequence:
Chromosome: 17; NC_000017.11 (3510502..3557812, complement)
Total number of exons:
18

Links

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