Description
Product Characteristics:
Aliases: CM AVM antibody, CMAVM antibody, DKFZp434N071 antibody, GAP antibody, GTPase activating protein antibody, GTPase-activating protein antibody, OTTHUMP00000222390 antibody, OTTHUMP00000222391 antibody, OTTHUMP00000222392 antibody, OTTHUMP00000222393 antibody, p120GAP antibody, p120RASGAP antibody, PKWS antibody, Ras GTPase-activating protein 1 antibody, RAS p21 protein activator (GTPase activating protein) 1 antibody, Ras p21 protein activator antibody, RASA antibody, RASA1 antibody, RASA1_HUMAN antibody, RasGAP antibody, Triphosphatase activating protein antibody
Target Information: The protein encoded by this gene is located in the cytoplasm and is part of the GAP1 family of GTPase-activating proteins. The gene product stimulates the GTPase activity of normal RAS p21 but not its oncogenic counterpart. Acting as a suppressor of RAS function, the protein enhances the weak intrinsic GTPase activity of RAS proteins resulting in the inactive GDP-bound form of RAS, thereby allowing control of cellular proliferation and differentiation. Mutations leading to changes in the binding sites of either protein are associated with basal cell carcinomas. Mutations also have been associated with hereditary capillary malformations (CM) with or without arteriovenous malformations (AVM) and Parkes Weber syndrome. Alternative splicing results in two isoforms where the shorter isoform, lacking the N-terminal hydrophobic region but retaining the same activity, appears to be abundantly expressed in placental but not adult tissues. [provided by RefSeq, May 2012]