G protein-coupled receptor 143
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Diagnostic Grade (Green)
Albinism or congenital nystagmus
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)Infantile nystagmus
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)Ocular and oculo-cutaneous albinism
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)Retinal disorders
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)Glaucoma (developmental)
Structural eye disease
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)X-linked recessive ocular albinism
nystagmus 6, congenital, X-linked
GPR143-related foveal hypoplasia
hereditary disease
ocular albinism
Nystagmus
retinal disorder
pathologic nystagmus
eye disorder
albinism
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
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. Also plays a role as an intracellular G protein-coupled receptor involved in melanosome biogenesis, organization and transport
GPR143 · P51810
Mean pLDDT
73.6/ 100
Confident
404 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
