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OCA2 / P protein
oculocutaneous albinism II
Could be involved in the transport of tyrosine, the precursor to melanin synthesis, within the melanocyte. Regulates the pH of melanosome and the melanosome maturation. One of the components of the mammalian pigmentary system. Seems to regulate the post-translational processing of tyrosinase, which catalyzes the limiting reaction in melanin synthesis. May serve as a key control point at which ethnic skin color variation is determined. Major determinant of brown and/or blue eye color.
| Gene Name: | oculocutaneous albinism II |
| Family/Subfamily: | Transporter , Arsenite resistance efflux pump |
| Synonyms: | OCA2, BOCA, BEY1, BEY2, Brown Oculocutaneous Albinism, D15S12, Eye color 2 (central brown), EYCL2, Hair color 3 (brown), HCL3, Eye color 3 (brown), Total brown iris pigmentation, Oculocutaneous albinism II, Pink-eye dilution, SHEP1, BEY, EYCL, EYCL3, P protein, PED |
| Target Sequences: | NM_000275 NP_000266.2 Q04671 |
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