DISEASES

Disease-gene associations mined from literature

Literature associating ARAP3 and hereditary lymphedema I

ARAP3 [ENSP00000239440]

Arf-GAP with Rho-GAP domain, ANK repeat and PH domain-containing protein 3; Phosphatidylinositol 3,4,5-trisphosphate-dependent GTPase-activating protein that modulates actin cytoskeleton remodeling by regulating ARF and RHO family members. Is activated by phosphatidylinositol 3,4,5-trisphosphate (PtdIns(3,4,5)P3) binding. Can be activated by phosphatidylinositol 3,4-bisphosphate (PtdIns(3,4,5)P2) binding, albeit with lower efficiency. Acts on ARF6, RAC1, RHOA and CDC42. Plays a role in the internalization of anthrax toxin; Ankyrin repeat domain containing

Synonyms:  ARAP3,  ARAP3p,  hARAP3,  B3KMD0,  B4DIT1 ...

Linkouts:  STRING  Pharos  UniProt  OMIM