Disease-gene associations mined from literature

Literature associating ARHGEF18 and retinitis pigmentosa 72

ARHGEF18 [ENSP00000352995]

114 kDa Rho-specific guanine nucleotide exchange factor; Acts as guanine nucleotide exchange factor (GEF) for RhoA GTPases. Its activation induces formation of actin stress fibers. Also act as a GEF for RAC1, inducing production of reactive oxygen species (ROS). Does not act as a GEF for CDC42. The G protein beta-gamma (Gbetagamma) subunits of heterotrimeric G proteins act as activators, explaining the integrated effects of LPA and other G-protein coupled receptor agonists on actin stress fiber formation, cell shape change and ROS production. Required for EPB41L4B-mediated regulation of the circumferential actomyosin belt in epithelial cells; Pleckstrin homology domain containing

Synonyms:  ARHGEF18,  ARHGEF18-001,  ARHGEF18-002,  ARHGEF18-003,  ARHGEF18-005 ...

Linkouts:  STRING  Pharos  UniProt