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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.
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Protein Aliases: G-protein coupled receptor 143; homolog of human ocular albinism 1 (Nettleship-Falls); MOA1; ocular albinism 1; Ocular albinism type 1 protein; Ocular albinism type 1 protein homolog
Gene Aliases: GPR143; NYS6; OA1; RGD1565799
UniProt ID: (Human) P51810, (Mouse) P70259
Entrez Gene ID: (Human) 4935, (Mouse) 18241, (Rat) 302619
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