Medical term:

OA1

GPR143

A gene on chromosome Xp22.3 that encodes a protein which binds to heterotrimeric G proteins, is targeted to melanosomes in pigment cells and is involved in melanosome biogenesis, organisation and transport. GPR143’s ligand-dependent signalling occurs through a G(q)-mediated pathway in melanocytic cells. It is a receptor for tyrosine, L-DOPA and dopamine; after binding to L-DOPA, it stimulates Ca2+ influx into the cytoplasm, increasing secretion of the neurotrophic factor SERPINF1 and relocalising beta arrestin at the plasma membrane.

Molecular Pathology
GP143 mutation causes ocular albinism type 1 (Nettleship-Falls-type ocular albinism).

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