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 International's 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.,
Melanosome membrane ; Multi-pass membrane protein . Lysosome membrane ; Multi-pass membrane protein . Apical cell membrane ; Multi-pass membrane protein . Distributed throughout the endo-melanosomal system but most of endogenous protein is localized in unpigmented stage II melanosomes. Its expression on the apical cell membrane is sensitive to tyrosine (PubMed:18828673). .
Expressed at high levels in the retina, including the retinal pigment epithelium (RPE), and in melanocytes. Weak expression is observed in brain and adrenal gland.
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