Analysis of SPAST Gene (Mutation) by RT-qPCR (CAT#: STEM-MT-1785-LGZ)

Introduction

Official Full Name: spastin
Also known as: FSP2; SPG4; ADPSP
This gene encodes a member of the AAA (atpase associated with various cellular activities) protein family. Members of this protein family share an ATPase domain and function in a variety of cellular processes, including membrane trafficking, intracellular motility, organelle biogenesis, protein folding, and proteolysis. The use of alternative translation initiation sites in this gene results in a single transcript variant that can generate isoforms with different N-terminal lengths and thus different export efficiencies from the nucleus to the cytoplasm. Furthermore, alternative splicing produces multiple transcript variants that encode isoforms that also differ in other protein regions. An isoform of this gene has been shown to be a microtubule-severing enzyme that regulates microtubule abundance, fluidity, and plus-end distribution. Mutations in this gene cause the most frequent form of autosomal dominant spastic paraplegia 4.