SLC24A5

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.

Solute Carrier Family 24 Member 5

Calcium, potassium:sodium antiporter that transports 1 Ca2+ and 1 K+ to the melanosome in exchange for 4 cytoplasmic Na+ (PubMed:18166528).
Involved in pigmentation, possibly by participating in ion transport in melanosomes (PubMed:16357253, PubMed:18166528).
Predominant sodium-calcium exchanger in melanocytes (PubMed:16357253, PubMed:18166528).

Biological Process calcium ion importManual Assertion Based On ExperimentIDA:ARUK-UCL
Biological Process calcium ion transmembrane transportManual Assertion Based On ExperimentIBA:GO_Central
Biological Process cellular calcium ion homeostasisManual Assertion Based On ExperimentIBA:GO_Central
Biological Process ion transmembrane transportManual Assertion Based On ExperimentIDA:MGI
Biological Process ion transportTAS:Reactome
Biological Process melanin biosynthetic processIEA:Ensembl
Biological Process melanocyte differentiationManual Assertion Based On ExperimentIBA:GO_Central
Biological Process negative regulation of melanin biosynthetic processIEA:Ensembl
Biological Process response to stimulusIEA:UniProtKB-KW

Golgi apparatus, trans-Golgi network membrane
Melanosome
Enriched in late-stage melanosomes.

Albinism, oculocutaneous, 6 (OCA6):
A disorder characterized by a reduction or complete loss of melanin in the skin, hair and eyes. Patients show reduced or lacking pigmentation often accompanied by eye symptoms such as photophobia, strabismus, moderate to severe visual impairment, and nystagmus.