OCA2
oculocutaneous albinism II
Synonyms:
BEY, BEY1, BEY2, BOCA, D15S12, EYCL, EYCL2, EYCL3, HCL3, P, PED, SHEP1
Species:
Human OCA2 (4948), Mouse Oca2 (18431), Zebrafish oca2 (567419), chicken OCA2 (428009), dog OCA2 (488683), domestic cat OCA2 (101091026), Horse OCA2 (100034107), sheep OCA2 (101102287), domestic guinea pig Oca2 (100724327), naked mole-rat Oca2 (101723256)
UniProtKB ID:
Gene ID:
- Human(4948) Summary: 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. [provided by RefSeq, Jul 2008]
- Mouse(18431) oculocutaneous albinism II
- Zebrafish(567419) oculocutaneous albinism II
- chicken(428009) oculocutaneous albinism II
- dog(488683) oculocutaneous albinism II
- domestic cat(101091026) oculocutaneous albinism II
- Horse(100034107) oculocutaneous albinism II
- sheep(101102287) oculocutaneous albinism II
- domestic guinea pig(100724327) oculocutaneous albinism II
- naked mole-rat(101723256) oculocutaneous albinism II
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