TRPV1

Chr 17

transient receptor potential cation channel subfamily V member 1

Also known as: VR1

NCBI Gene: 7442 ENSG00000196689 UniProt: Q8NER1 OMIM: 602076

The protein encoded by this gene is a non-selective calcium-permeable cation channel that detects noxious chemical and thermal stimuli, serving as a receptor for capsaicin and temperatures above 42°C, and plays a role in inflammatory pain and hyperalgesia. Mutations in TRPV1 cause autosomal recessive episodic pain syndrome with autonomic dysfunction, characterized by recurrent episodes of severe pain associated with autonomic features. This gene is not highly constrained against loss-of-function variants based on population data.

GeneReviews OMIM ResearchSummary from RefSeq, UniProt

Capsaicin, the main pungent ingredient in hot chili peppers, elicits a sensation of burning pain by selectively activating sensory neurons that convey information about noxious stimuli to the central nervous system. The protein encoded by this gene is a receptor for capsaicin and is a non-selective cation channel that is structurally related to members of the TRP family of ion channels. This receptor is also activated by increases in temperature in the noxious range, suggesting that it functions as a transducer of painful thermal stimuli in vivo. Four transcript variants encoding the same protein, but with different 5' UTR sequence, have been described for this gene. [provided by RefSeq, Jul 2008]

GeneReviews OMIM ResearchGenerating clinical summary…

Active trials

1036

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.08

LOEUF

Multiple*

Mechanism· predicted