Disease

Oculocutaneous Albinism Type 2

About the Disease
Albinism, Oculocutaneous, Type Ii, also known as oca2, is related to skin/hair/eye pigmentation, variation in, 1 and acute contagious conjunctivitis. An important gene associated with Albinism, Oculocutaneous, Type Ii is OCA2 (OCA2 Melanosomal Transmembrane Protein), and among its related pathways/superpathways are GPR143 in melanocytes and retinal pigment epithelium cells and Prader-Willi and Angelman syndrome. Affiliated tissues include skin, eye and retina, and related phenotypes are nystagmus and abnormality of retinal pigmentation

Common Targets
TYR | OCA2 | SLC45A2

疾病靶点研报
Oculocutaneous albinism type 2

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