Disease-gene associations mined from literature

Literature associating GNAI3 and ocular albinism

GNAI3 [ENSP00000358867]

Guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3; Heterotrimeric guanine nucleotide-binding proteins (G proteins) function as transducers downstream of G protein-coupled receptors (GPCRs) in numerous signaling cascades. The alpha chain contains the guanine nucleotide binding site and alternates between an active, GTP-bound state and an inactive, GDP-bound state. Signaling by an activated GPCR promotes GDP release and GTP binding. The alpha subunit has a low GTPase activity that converts bound GTP to GDP, thereby terminating the signal. Both GDP release and GTP hydrolysis are modulated by numerous regulatory proteins. Signaling is mediated via effector proteins, such as adenylate cyclase. Inhibits adenylate cyclase activity, leading to decreased intracellular cAMP levels. Stimulates the activity of receptor-regulated K(+) channels. The active GTP-bound form prevents the association of RGS14 with centrosomes and is required for the translocation of RGS14 from the cytoplasm to the plasma membrane. May play a role in cell division; Belongs to the G-alpha family. G(i/o/t/z) subfamily.

Synonyms:  GNAI3,  GNAI3p,  hGNAI3,  GNAI3-001,  P08754 ...

Linkouts:  STRING  Pharos  UniProt  OMIM