Ocular albinism type 1 protein | |||||||||
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Identifiers | |||||||||
Symbol | Ocular_alb | ||||||||
Pfam | PF02101 | ||||||||
Pfam clan | CL0192 | ||||||||
InterPro | IPR001414 | ||||||||
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G-protein coupled receptor 143, also known as Ocular albinism type 1 (OA1) in humans, is a conserved integral membrane protein with seven transmembrane domains and similarities with G protein-coupled receptors (GPCRs) that is expressed in the eye and epidermal melanocytes.[4][5][6] This protein encoded by the GPR143 gene,[7][8] whose variants can lead to Ocular albinism type 1.[9]
The GPR143 gene is regulated by the Microphthalmia-associated transcription factor.[10][11]