DISEASES

Disease-gene associations mined from literature

Literature associating RHOB and familial hypertrophic cardiomyopathy

RHOB [ENSP00000272233]

Rho-related GTP-binding protein RhoB; Mediates apoptosis in neoplastically transformed cells after DNA damage. Not essential for development but affects cell adhesion and growth factor signaling in transformed cells. Plays a negative role in tumorigenesis as deletion causes tumor formation. Involved in intracellular protein trafficking of a number of proteins. Targets PKN1 to endosomes and is involved in trafficking of the EGF receptor from late endosomes to lysosomes. Also required for stability and nuclear trafficking of AKT1/AKT which promotes endothelial cell survival during vascular development. Serves as a microtubule-dependent signal that is required for the myosin contractile ring formation during cell cycle cytokinesis. Required for genotoxic stress-induced cell death in breast cancer cells; Belongs to the small GTPase superfamily. Rho family.

Synonyms:  RHOB,  B4DMJ8,  P62745,  ARH6,  ARHB ...

Linkouts:  STRING  Pharos  UniProt  OMIM