Entrez gene ID | | 51151 |
Official gene symbol | | SLC45A2 |
Full name | | solute carrier family 45, member 2 |
Aliases | | ,1A1,AIM1,MATP,SHEP5, |
Gene summary | | 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] |
Location | | Chromosome: 5 Locus: 5p13.2 |
Gene position | | 33984780 - 33944721 Map Viewer |
Gene orientation | | minus |
Gene size | | 40060 bp |
Gene sequence |
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OMIM ID | | 606202 |
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