GPR143 G protein-coupled receptor 143 [ Homo sapiens (human) ] - Gene - Data resources

4935

GPR143 G protein-coupled receptor 143 [ Homo sapiens (human) ]
Source: NCBI Gene (ID 4935)

Symbol: GPR143

Full name: G protein-coupled receptor 143

Gene type: protein coding

RefSeq status: REVIEWED

Also known as: NYS6; OA1

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, Dec 2009]

Expression: Broad expression in skin (RPKM 3.2), placenta (RPKM 2.0) and 16 other tissues

Orthologs: mouse

Gene size: 53257bp

Exon count: 10