SLC45A2基因编码的功能和结构描述
该基因编码一种介导黑色素合成的转运蛋白。这种蛋白在高比例的黑色素瘤细胞中表达。该基因突变是4型眼皮肤白化病的一个原因，该基因的多态性与皮肤和头发颜色的变化有关已发现该基因编码不同亚型的多个转录变体。
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.
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