solute carrier family 45, member 2
Symbol
SLC45A2
(may also be known as: None)
Organism
Human
Description
This gene encodes a transporter protein that mediates melanin synthesis. The protein is expressed in a high percentage of melanoma cell lines. Mutations in this gene are a cause of oculocutaneous albinism type 4, and polymorphisms in this gene are associated with variations in skin and hair color. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
Orthologs
Symbol | Species | |
---|---|---|
slc45a2 | Danio rerio | |
Slc45a2 | Mus musculus | |
Slc45a2 | Rattus norvegicus | |
sut1 | Schizosaccharomyces pombe |
Links to external resources
Changes associated with this gene
GO Terms
GO ID | GO Term | GO Category | |
---|---|---|---|
GO:0007601 | visual perception | biological_process | |
GO:0042438 | melanin biosynthetic process | biological_process | |
GO:0048066 | developmental pigmentation | biological_process | |
GO:0050896 | response to stimulus | biological_process | |
GO:0016020 | membrane | cellular_component | |
GO:0016021 | integral to membrane | cellular_component | |
GO:0033162 | melanosome membrane | cellular_component | |