ocular albinism 1


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).

oc·u·lar al·bin·ism 1

(ok'yū-lăr al'bin-izm) Visual disorder characterized by depigmentation of the fundus and prominent choroidal vessels, nystagmus, and titubation; vision is usually impaired; caused by mutation in the OA1 gene on chromosome Xp; X-linked inheritance.
Synonym(s): Nettleship-Falls albinism.