This Antibody was verified by Relative expression to ensure that the antibody binds to the antigen stated. View Details
Immunogen sequence: CSLGFQSPRK EIQWESLTTS AAEGAHPSPL MPHENPASGK VSQVGGQTSD EALSMLSEGS DASTIEIHTA SESCNKNEGD PALPT
Highest antigen sequence identity to the following orthologs: Mouse - 55%, Rat - 55%.
Ocular albinism type 1 protein is a conserved integral membrane protein with seven transmembrane domains. It is expressed in the eye and epidermal melanocytes. Defects in GPR143 are the cause of ocular albinism type 1 (OA1); 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.
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Protein Aliases: G-protein coupled receptor 143; ocular albinism 1; Ocular albinism type 1 protein
Gene Aliases: GPR143; NYS6; OA1
UniProt ID: (Human) P51810
Entrez Gene ID: (Human) 4935