Gene Symbol | SLC24A5 |
Entrez Gene ID | 283652 |
Full Name | solute carrier family 24 member 5 |
Synonyms | JSX,NCKX5,OCA6,SHEP4 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene is a member of the potassium-dependent sodium/calcium exchanger family and encodes an intracellular membrane protein with 2 large hydrophilic loops and 2 sets of multiple transmembrane-spanning segments. Sequence variation in this gene has been associated with differences in skin pigmentation. [provided by RefSeq, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | [Skin/hair/eye pigmentation 4, fair/dark skin], 113750 (3); Albinism, oculocutaneous, type VI, 113750 (3) |