GPR143 Antibody – Rabbit Polyclonal

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]

GPR143: Receptor for tyrosine, L-DOPA and dopamine. After binding to L-DOPA, stimulates Ca(2+) influx into the cytoplasm, increases secretion of the neurotrophic factor SERPINF1 and relocalizes beta arrestin at the plasma membrane; this ligand- dependent signaling occurs through a G(q)-mediated pathway in melanocytic cells. Its activity is mediated by G proteins which activate the phosphoinositide signaling pathway. Plays also a role as an intracellular G protein-coupled receptor involved in melanosome biogenesis, organization and transport. Defects in GPR143 are the cause of albinism ocular type 1 (OA1); also known as Nettleship-Falls type ocular albinism. Form of albinism affecting only the eye. Pigment of the hair and skin is normal or only slightly diluted. Eyes may be severely affected with photophobia and reduced visual acuity. Nystagmus or strabismus are often associated. The irides and fundus are depigmented. Defects in GPR143 are the cause of Nystagmus congenital X-linked type 6 (NYS6). It is a condition defined as conjugated, spontaneous and involuntary ocular oscillations that appear at birth or during the first three months of life. Other associated features may include mildly decreased visual acuity, strabismus, astigmatism, and occasionally head nodding. Belongs to the G-protein coupled receptor OA family.

Protein type: GPCR, OA family; Membrane protein, integral; Membrane protein, multi-pass; Receptor, GPCR

Chromosomal Location of Human Ortholog: Xp22.3

Cellular Component: Golgi apparatus; membrane; lysosomal membrane; cytoplasm; apical plasma membrane; melanosome membrane; plasma membrane; melanosome; integral to membrane

Molecular Function: G-protein coupled receptor activity; protein binding; dopamine binding

Biological Process: G-protein coupled receptor protein signaling pathway; phosphoinositide-mediated signaling; visual perception; neuropeptide signaling pathway; melanosome organization and biogenesis; melanosome localization; regulation of calcium-mediated signaling; signal transduction; melanosome transport; eye pigment biosynthetic process

Disease: Nystagmus 6, Congenital, X-linked; Albinism, Ocular, Type I