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Ocular albinism type 1 protein is a conserved integral membrane protein with seven transmembrane domains. It is expressed in the eye and epidermal melanocytes. Defects in GPR143 are the cause of ocular albinism type 1 (OA1); also known as Nettleship-Falls type ocular albinism. OA1 is an X-linked disorder characterized by severe impairment of visual acuity, retinal hypopigmentation and the presence of macromelanosomes.
G protein-coupled receptor 143; GPR143; G-protein coupled receptor 143; homolog of human ocular albinism 1 (Nettleship-Falls); MOA1; NYS6; OA1; ocular albinism 1; ocular albinism type 1 protein; Ocular albinism type 1 protein homolog; RGD1565799
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