Disease-gene associations mined from literature

Literature associating GNB5 and congenital stationary night blindness

GNB5 [ENSP00000261837]

Guanine nucleotide binding protein (G protein), beta 5; Enhances GTPase-activating protein (GAP) activity of regulator of G protein signaling (RGS) proteins, hence involved in the termination of the signaling initiated by the G protein coupled receptors (GPCRs) by accelerating the GTP hydrolysis on the G-alpha subunits, thereby promoting their inactivation (Probable). Increases RGS9 GTPase-activating protein (GAP) activity, hence contributes to the deactivation of G protein signaling initiated by D(2) dopamine receptors. May play an important role in neuronal signaling, including in the parasympathetic, but not sympathetic, control of heart rate (By similarity).

Synonyms:  GNB5,  GNB5p,  hGNB5,  A0A024R5R9,  A0A024R5V3 ...

Linkouts:  STRING  Pharos  UniProt  OMIM