DISEASES

Disease-gene associations mined from literature

Literature associating TRPV6 and autosomal recessive disease

TRPV6 [ENSP00000352358]

Transient receptor potential cation channel, subfamily V, member 6; Calcium selective cation channel that mediates Ca(2+) uptake in various tissues, including the intestine. Important for normal Ca(2+) ion homeostasis in the body, including bone and skin (By similarity). The channel is activated by low internal calcium level, probably including intracellular calcium store depletion, and the current exhibits an inward rectification. Inactivation includes both a rapid Ca(2+)-dependent and a slower Ca(2+)- calmodulin-dependent mechanism; the latter may be regulated by phosphorylation. In vitro, is slowly inhibited by Mg(2+) in a voltage-independent manner. Heteromeric assembly with TRPV5 seems to modify channel properties. TRPV5-TRPV6 heteromultimeric concatemers exhibit voltage-dependent gating; Belongs to the transient receptor (TC 1.A.4) family. TrpV subfamily. TRPV6 sub-subfamily.

Synonyms:  TRPV6,  TRPV6p,  hTRPV6,  C9J9W0,  C9JHY1 ...

Linkouts:  STRING  Pharos  UniProt  OMIM