GPR143, OA1, G-protein coupled receptor 143, Ocular albinism type 1 protein
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. [provided by RefSeq, Dec 2009],disease:Defects in GPR143 are the cause of ocular albinism type 1 (OA1) [MIM:300500], 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.,function:Not known, binds heterotrimeric G proteins.,online information:GPR143 mutations,online information:Retina Internationals Scientific Newsletter,similarity:Belongs to the G-protein coupled receptor OA family.,subcellular location:Targeted to intracellular organelles, namely the melanosomes in pigment cells.,tissue specificity:Exclusively expressed in pigment cells.,
