Synonyms: Ocular Albinism Type 1 Protein,Ocular albinism type 1 proteinOcular Albinism 1,OA1,Ocular Albinism 1 (Nettleship-Falls),G Protein-Coupled Receptor 143,G-Protein Coupled Receptor 143,G-protein coupled receptor 143,GPR143,GP143,NYS6
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.