TRPV3

Description

The TRPV3 (transient receptor potential cation channel subfamily V member 3) is a protein-coding gene located on chromosome 17.

TRPV3 is a human gene that encodes a protein of the same name. The TRPV3 protein belongs to a family of nonselective cation channels involved in various processes, including temperature sensation and vasoregulation. It is activated at temperatures between 22 and 40 degrees Celsius. The TRPV3 gene is located near another family member (TRPV1) on chromosome 17, and the encoded proteins are thought to associate and form heteromeric channels. TRPV3 is widely expressed in tissues, especially in the skin (keratinocytes) and brain. It acts as a molecular sensor for warm temperatures. Mice lacking TRPV3 are unable to sense elevated temperatures (>33 °C) but can sense cold and noxious heat. In addition to thermosensation, TRPV3 channels are involved in hair growth, as mutations in the TRPV3 gene cause hair loss in mice. The role of TRPV3 in the brain is not entirely clear but appears to play a role in mood regulation. The natural product, incensole acetate, exerts protective effects partially mediated by TRPV3 channels.

TRPV3 is a putative receptor-activated non-selective calcium permeant cation channel. It is activated by warm temperatures (innocuous) and shows an increased response at noxious temperatures greater than 39 degrees Celsius. Activation exhibits an outward rectification. TRPV3 may associate with TRPV1 and may modulate its activity. TRPV3 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).

TRPV3 is also known as FNEPPK2, OLMS, OLMS1, VRL3.

Associated Diseases

WES Whole Exome Sequencing

Clinical Exome Sequencing