Disease-gene associations mined from literature

Literature associating TRPV3 and early infantile epileptic encephalopathy 24

TRPV3 [ENSP00000301365]

Transient receptor potential cation channel, subfamily V, member 3; 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); Ankyrin repeat domain containing

Synonyms:  TRPV3,  TRPV3p,  hTRPV3,  B3KXH2,  B3KXP7 ...

Linkouts:  STRING  Pharos  UniProt