Full name: solute carrier family 45 member 2

Gene type: protein coding

RefSeq status: REVIEWED

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

Gene size: 40071bp

Exon count: 8