SLC45A2, Official Symbol SLC45A2provided by HGNC Official Full Name solute carrier family 45 member 2provided by HGNC Primary source HGNC:HGNC:16472 See related Ensembl:ENSG00000164175 MIM:606202; AllianceGenome:HGNC:16472 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as 1A1; AIM1; MATP; OCA4; SHEP5 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, Mar 2009] Expression Low expression observed in reference dataset See more Orthologs mouse all