GPR143 : G protein-coupled receptor 143

Description

The GPR143 (G protein-coupled receptor 143) is a protein-coding gene located on chromosome X.

The GPR143 gene, also known as OA1, provides instructions for making a protein that is involved in the coloring (pigmentation) of the eyes and skin. This protein is made in the light-sensitive tissue at the back of the eye (the retina) and in skin cells. The GPR143 protein is part of a signaling pathway that controls the growth and maturation of melanosomes, which are cellular structures that produce and store a pigment called melanin. Melanin is the substance that gives skin, hair, and eyes their color. In the retina, this pigment also plays a critical role in normal vision.

GPR143 acts as a receptor for tyrosine, L-DOPA, and dopamine. Upon binding to L-DOPA, it triggers an influx of calcium ions into the cytoplasm, increases the secretion of the neurotrophic factor SERPINF1, and relocates beta-arrestin to the plasma membrane. This ligand-dependent signaling pathway is mediated by G(q) proteins in melanocytic cells. The activity of GPR143 is regulated by G proteins, which activate the phosphoinositide signaling pathway. It also functions as an intracellular G protein-coupled receptor, contributing to the biogenesis, organization, and transport of melanosomes.

GPR143 is also known as NYS6, OA1.

Associated Diseases

WES Whole Exome Sequencing

Clinical Exome Sequencing