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gpr143

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Official Full Name
G protein-coupled receptor 143
Background
This gene encodes a protein that binds to heterotrimeric G proteins and is targeted to melanosomes in pigment cells. This protein is thought to be involved in intracellular signal transduction mechanisms. Mutations in this gene cause ocular albinism type 1, also referred to as Nettleship-Falls type ocular albinism, a severe visual disorder. A related pseudogene has been identified on chromosome Y.
Synonyms
GPR143; G protein-coupled receptor 143; OA1, ocular albinism 1 (Nettleship Falls); G-protein coupled receptor 143; ocular albinism 1 (Nettleship Falls); ALBINISM OCULAR TYPE I; G protein coupled receptor 143; GP143_HUMAN; MOA1; NETTLESHIP FALLS TYPE OCULAR ALBINISM; Ocular albinism type 1 protein; Ocular albinism type 1 protein homolog; Ocular albinism1 Nettleship Falls type; OA1; NYS6; zgc:65915; zgc:77322

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