Description
Product Characteristics:
G protein-coupled receptors (GPRs or GPCRs), are members of the largest protein family and play a role in many different stimulus-response pathways. G-protein coupled receptors mediate extracellular signals into intracellular signals (G-protein activation). They respond to a great variety of signaling molecules, including hormones, neurotransmitters and other proteins and peptides. GPR143, also designated ocular albinism type 1 protein (OA1), is detected exclusively in pigment cells. OA1, which is a multi-pass membrane protein, is a melanosomal protein expressed primarily in pigment cells. Defects in the gene encoding for OA1 cause ocular albinism, an X-linked disorder mainly characterized by retinal hypopigmentation and visual impairment.
Subcellular location: Cytoplasm, Cell membrane
Synonyms: ALBINISM OCULAR TYPE I, G protein coupled receptor 143, G-protein coupled receptor 143, GP143_HUMAN, GPR143, MOA1, NETTLESHIP FALLS TYPE OCULAR ALBINISM, Ocular albinism type 1 protein, Ocular albinism type 1 protein homolog, Ocular albinism1 Nettleship Falls type.
Target Information: 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]