DISEASES

Disease-gene associations mined from literature

Literature associating TRPV5 and pseudohypoaldosteronism

TRPV5 [ENSP00000265310]

Transient receptor potential cation channel, subfamily V, member 5; Constitutively active calcium selective cation channel thought to be involved in Ca(2+) reabsorption in kidney and intestine. Required for normal Ca(2+) reabsorption in the kidney distal convoluted tubules (By similarity). The channel is activated by low internal calcium level and the current exhibits an inward rectification. A Ca(2+)-dependent feedback regulation includes fast channel inactivation and slow current decay (By similarity). Heteromeric assembly with TRPV6 seems to modify channel properties. TRPV5-TRPV6 heteromultimeric concatemers exhibit voltage-dependent gating (By similarity); Belongs to the transient receptor (TC 1.A.4) family. TrpV subfamily. TRPV5 sub-subfamily.

Synonyms:  TRPV5,  TRPV5p,  hTRPV5,  Q8N4C1,  Q9NQA5 ...

Linkouts:  STRING  Pharos  UniProt  OMIM