Disease-gene associations mined from literature

Literature associating SLC24A1 and congenital stationary night blindness

SLC24A1 [ENSP00000261892]

Sodium/potassium/calcium exchanger 1; 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(+).

Synonyms:  SLC24A1,  SLC24A1p,  hSLC24A1,  F5H127,  F5H483 ...

Linkouts:  STRING  Pharos  UniProt  OMIM