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oca2

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Official Full Name
oculocutaneous albinism II
Background
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.
Synonyms
OCA2; oculocutaneous albinism II; D15S12, EYCL2, EYCL3, eye color 2 (central brown) , eye color 3 (brown) , oculocutaneous albinism II (pink eye dilution (murine) homolog) , oculocutaneous albinism II (pink eye dilution homolog, mouse) , P; P protein; BEY; BEY1; BEY2; EYCL; melanocyte specific transporter protein; BOCA; D15S12; EYCL2; HCL3; PED; EYCL3; 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; P_HUMAN; Pink eyed dilution protein homolog; Pink-eyed dilution protein homolog; SHEP1; total brown iris pigmentation

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