DISEASES

Disease-gene associations mined from literature

Literature associating ARHGAP24 and periventricular nodular heterotopia

ARHGAP24 [ENSP00000378611]

RAC1- and CDC42-specific GTPase-activating protein of 72 kDa; Rho GTPase-activating protein involved in cell polarity, cell morphology and cytoskeletal organization. Acts as a GTPase activator for the Rac-type GTPase by converting it to an inactive GDP-bound state. Controls actin remodeling by inactivating Rac downstream of Rho leading to suppress leading edge protrusion and promotes cell retraction to achieve cellular polarity. Able to suppress RAC1 and CDC42 activity in vitro. Overexpression induces cell rounding with partial or complete disruption of actin stress fibers and formation of membrane ruffles, lamellipodia, and filopodia. Isoform 2 is a vascular cell-specific GAP involved in modulation of angiogenesis; Pleckstrin homology domain containing

Synonyms:  ARHGAP24,  B3KUX7,  D6RBC2,  D6RCP5,  D6RHH1 ...

Linkouts:  STRING  Pharos  UniProt  OMIM