Analysis of RAB3GAP2 Gene (Mutation) by RT-qPCR (CAT#: STEM-MT-0219-LGZ)

Introduction

Also known as: p150; SPG69; MARTS1; WARBM2; RAB3GAP150; RAB3-GAP150
The protein encoded by this gene belongs to the RAB3 protein family, and the members of the RAB3 protein family are involved in regulating the exocytosis of neurotransmitters and hormones. This protein forms a Rab3 gtpase activation complex with RAB3GAP1, in which RAB3GAP1 constitutes the regulatory subunit, while the latter acts as the catalytic subunit. This gene is expressed at the highest level in the brain, consistent with its key role in neurodevelopment. Mutations in this gene are associated with Martens syndrome.