Sequence of this protein is as follows: MHLEGRDGRR YPGAPAVELL QTSVPSGLAE LVAGKRRLPR GAGGADPSHS CPRGAAGQSS WAPAGQEFAS FLTKGRSHSS LPQMSSSRSK DSCFTENTPL LRNSLQEKGS RCIPVYHPEF ITAEESWEDS SADWERRYLL SREVSGLSAS ASSEKGDLLD SPHIRLRLSK LRRCVQWLKV
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.
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Protein Aliases: 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; Pink-eyed dilution protein homolog; total brown iris pigmentation
Gene Aliases: BEY; BEY1; BEY2; BOCA; D15S12; D7H15S12; D7Icr28RN; D7Nic1; EYCL; EYCL2; EYCL3; HCL3; OCA2; P; PED; SHEP1