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This gene encodes the human homologue 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 - a precursor of melanin. Mutations in this gene result in type 2 oculocutaneous albinism.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: 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); P protein; P-protein; Pink-eyed dilution protein homolog; total brown iris pigmentation
基因别名: BEY; BEY1; BEY2; BOCA; D15S12; EYCL; EYCL2; EYCL3; HCL3; OCA2; P; PED; SHEP1
UniProt ID: (Human) Q04671
Entrez Gene ID: (Human) 4948