Disease-gene associations mined from literature

Literature associating SLC24A2 and oculocutaneous albinism type V

SLC24A2 [ENSP00000344801]

Solute carrier family 24 (sodium/potassium/calcium exchanger), member 2; Critical component of the visual transduction cascade, controlling the calcium concentration of outer segments during light and darkness. Light causes a rapid lowering of cytosolic free calcium in the outer segment of both retinal rod and cone photoreceptors and the light-induced lowering of calcium is caused by extrusion via this protein which plays a key role in the process of light adaptation. Transports 1 Ca(2+) and 1 K(+) in exchange for 4 Na(+); Solute carriers

Synonyms:  SLC24A2,  SLC24A2p,  hSLC24A2,  Q9UI40,  NCKX2 ...

Linkouts:  STRING  Pharos  UniProt  OMIM