DISEASES

Disease-gene associations mined from literature

Literature associating PLEKHG2 and dystonia

PLEKHG2 [ENSP00000392906]

Pleckstrin homology domain-containing family G member 2; May be a transforming oncogene with exchange activity for CDC42 (By similarity). May be a guanine-nucleotide exchange factor (GEF) for RAC1 and CDC42. Activated by the binding to subunits beta and gamma of the heterotrimeric guanine nucleotide-binding protein (G protein) . Involved in the regulation of actin polymerization .

Synonyms:  PLEKHG2,  PLEKHG2p,  hPLEKHG2,  C9J7S4,  C9JVL3 ...

Linkouts:  STRING  Pharos  UniProt