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ENAlbinism, Oculocutaneous, Type Ii (OCA2)
Alias:
Oculocutaneous Albinism Type 2
Oca2
Oculocutaneous Albinism Type Ii
Brown Oculocutaneous Albinism
Oculocutaneous Albinism, Type Ii, Modifier of
Oculocutaneous Albinism, Tyrosinase-Positive
Tyrosinase-Positive Oculocutaneous Albinism
Albinism, Brown Oculocutaneous
Albinism Ii
Albinism, Oculocutaneous, Type Ii, Modifier of
Oculocutaneous Albinism, Tyrosinase Positive
Oculocutaneous Albinism Tyrosinase-Positive
Oculocutaneous Albinism, Type Ii
Albinism, Oculocutaneous, 2
Albinoidism
Oca-2
Boca
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Albinism, Oculocutaneous, Type Ii, also known as oculocutaneous albinism type 2, is related to skin/hair/eye pigmentation, variation in, 1 and albinism, oculocutaneous, type ia. An important gene associated with Albinism, Oculocutaneous, Type Ii is OCA2 (OCA2 Melanosomal Transmembrane Protein), and among its related pathways/superpathways are Prader-Willi and Angelman syndrome and GPR143 in melanocytes and retinal pigment epithelium cells. Affiliated tissues include skin and eye, and related phenotypes are nystagmus and abnormality of retinal pigmentation
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