DISEASES

Disease-gene associations mined from literature

Literature associating RHOD and autosomal recessive centronuclear myopathy

RHOD [ENSP00000308576]

Rho-related GTP-binding protein RhoD; Involved in endosome dynamics. May coordinate membrane transport with the function of the cytoskeleton. Involved in the internalization and trafficking of activated tyrosine kinase receptors such as PDGFRB. Participates in the reorganization of actin cytoskeleton; the function seems to involve WHAMM and includes regulation of filopodia formation and actin filament bundling. Can modulate the effect of DAPK3 in reorganization of actin cytoskeleton and focal adhesion dissolution; Belongs to the small GTPase superfamily. Rho family.

Synonyms:  RHOD,  E9PIG5,  O00212,  E9PIG5p,  hE9PIG5 ...

Linkouts:  STRING  Pharos  UniProt  OMIM