Entrez gene ID | | 4935 |
Official gene symbol | | GPR143 |
Full name | | G protein-coupled receptor 143 |
Aliases | | ,OA1, |
Gene summary | | 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] |
Location | | Chromosome: X Locus: Xp22.3 |
Gene position | | 9734005 - 9693453 Map Viewer |
Gene orientation | | minus |
Gene size | | 40553 bp |
Gene sequence |
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OMIM ID | | 300808 |