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SLC45A2
Membrane-associated transporter protein (MATP) also known as solute carrier family 45 member 2 (SLC45A2) or melanoma antigen AIM1 is a protein that in humans is encoded by the ''SLC45A2'' gene.〔(【引用サイトリンク】 url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=51151 )〕
==Function==
SLC45A2 is a transporter protein that mediates melanin synthesis. SLC45A2 is also a melanocyte differentiation antigen that is expressed in a high percentage of melanoma cell lines. A similar sequence gene in medaka, 'B,' encodes a transporter that mediates melanin synthesis. Mutations in this gene are a cause of oculocutaneous albinism type 4. Alternative splicing results in multiple transcript variants encoding different isoforms.〔
In melanocytic cell types, the SLC45A2 gene is regulated by microphthalmia-associated transcription factor.
SLC45A2 has been found to play a role in pigmentation in several species. In humans, it has been identified as a factor in the light skin of Europeans and as an ancestry-informative marker (AIM) for distinguishing Sri Lankan from European ancestry. SLC45A2 is the so-called cream gene responsible in horses for buckskin, palomino and cremello coloration, while a mutation in this gene underlies the white tiger variant.
抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』
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