产品介绍 靶标: OCA2 产品别名: BEY; BEY1; BEY2; BOCA; D15S12; EYCL; EYCL2; EYCL3; HCL3; P; PED; SHEP1; OCA2; OCA2 melanosomal transmembrane protein; OCA2 melanosomal transmembrane protein; P protein; P-protein; eye color 2 (central brown); eye color 3 (brown); hair color 3 (brown); melanocyte-specific transporter protein; oculocutaneous albinism II (pink-eye dilution homolog, mouse); pink-eyed dilution protein homolog; total brown iris pigmentation; 黑素细胞特异性转运蛋白; 背景信息: This gene encodes the human homolog of the mouse p (pink-eyed dilution) gene. The encoded protein is believed to be an integral membrane protein involved in small molecule transport, specifically tyrosine, which is a precursor to melanin synthesis. It is involved in mammalian pigmentation, where it may control skin color variation and act as a determinant of brown or blue eye color. Mutations in this gene result in type 2 oculocutaneous albinism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014], 宿主:Rbt |
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