Analysis of RASA1 Gene (Mutation) by RT-qPCR (CAT#: STEM-MT-1844-LGZ)

Introduction

Official Full Name: RAS p21 protein activator 1
Also known as: GAP; PKWS; RASA; p120; CMAVM; CM-AVM; CMAVM1; RASGAP; p120GAP; p120RASGAP
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. As an inhibitor of RAS function, this protein enhances the weak intrinsic GTPase activity of RAS proteins, resulting in the inactivation of the GDP-bound form of RAS, thereby controlling cell proliferation and differentiation. Mutations that alter the binding sites of these two proteins are associated with basal cell carcinoma. Mutations are also associated with inherited capillary malformations (CMs) with or without arteriovenous malformations (AVMs) and Parkes Weber syndrome. Alternative splicing produces two isoforms, the shorter of which lacks the N-terminal hydrophobic region but retains the same activity and appears to be abundantly expressed in placental but not adult tissues.