Disease-gene associations mined from literature

Literature associating ARHGEF1 and third cranial nerve disease

ARHGEF1 [ENSP00000337261]

Rho guanine nucleotide exchange factor (GEF) 1; Seems to play a role in the regulation of RhoA GTPase by guanine nucleotide-binding alpha-12 (GNA12) and alpha-13 (GNA13) subunits. Acts as GTPase-activating protein (GAP) for GNA12 and GNA13, and as guanine nucleotide exchange factor (GEF) for RhoA GTPase. Activated G alpha 13/GNA13 stimulates the RhoGEF activity through interaction with the RGS-like domain. This GEF activity is inhibited by binding to activated GNA12. Mediates angiotensin-2- induced RhoA activation.

Synonyms:  ARHGEF1,  ARHGEF1p,  hARHGEF1,  LOC100505585,  A0A024R0R1 ...

Linkouts:  STRING  Pharos  UniProt  OMIM