DefinitionThis section has been translated automatically.
The SLC24A5 gene (SLC24A5 stands for "Solute Carrier Family 24 Member 5") is a protein-coding gene located on chromosome 15q21.1.
General informationThis section has been translated automatically.
The SLC24A5 gene belongs to the potassium-dependent sodium/calcium exchanger family and encodes an intracellular membrane protein with two large hydrophilic loops and two sections with multiple transmembrane-spanning segments. The encoded protein is a calcium-potassium-sodium antiporter that transports 1 Ca(2+) and 1 K(+) to the melanosome in exchange for 4 cytoplasmic Na(+) (Ginger RS et al. (2008). It is involved in pigmentation, possibly by participating in ion transport in melanosomes (Lamason RL et al. (2005).
Mutations in the SLC24A5 gene (609802) are associated with oculocutaneous albinism type 4 (OCA 4/ SHEP4).
LiteratureThis section has been translated automatically.
- Ginger RS et al (2008) SLC24A5 encodes a trans-Golgi network protein with potassium-dependent sodium-calcium exchange activity that regulates human epidermal melanogenesis. J Biol Chem 283:5486-5495.
- Lamason RL et al (2005) SLC24A5, a putative cation exchanger, affects pigmentation in zebrafish and humans. Science 310(5755):1782-1786.
