Disease-gene associations mined from literature

Literature associating SLC24A5 and ocular albinism

SLC24A5 [ENSP00000341550]

Solute carrier family 24 (sodium/potassium/calcium exchanger), member 5; Cation exchanger involved in pigmentation, possibly by participating in ion transport in melanosomes. Predominant sodium- Calcium exchanger in melanocytes. Probably transports 1 Ca(2+) and 1 K(+) to the melanosome in exchange for 4 cytoplasmic Na(+); Belongs to the Ca(2+):cation antiporter (CaCA) (TC 2.A.19) family. SLC24A subfamily.

Synonyms:  SLC24A5,  SLC24A5p,  hSLC24A5,  H0YLZ0,  Q71RS6 ...

Linkouts:  STRING  Pharos  UniProt  OMIM