DISEASES

Disease-gene associations mined from literature

Literature associating GPR143 and X-linked ichthyosis

GPR143 [ENSP00000417161]

G-protein coupled receptor 143; 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. ECO:0000269|PubMed:18697795, ECO:0000269|PubMed:18828673,

Synonyms:  GPR143,  GPR143p,  hGPR143,  C9J9N1,  H7BZN6 ...

Linkouts:  STRING  Pharos  UniProt  OMIM