Analysis of ALS2 Gene (Mutation) by RT-qPCR (CAT#: STEM-MT-1507-LGZ)

Introduction

Official Full Name: alsin Rho guanine nucleotide exchange factor ALS2<br />Also known as: ALSJ; PLSJ; IAHSP; ALS2CR6<br />The protein encoded by this gene contains an ATS1/RCC1-like domain, a RhoGEF domain, and a vacuolar protein sorting 9 (VPS9) domain, all of which are guanine-nucleotide exchange factors that activate members of the Ras superfamily of GTPases. The protein functions as a guanine nucleotide exchange factor for the small GTPase RAB5. The protein localizes with RAB5 on early endosomal compartments, and functions as a modulator for endosomal dynamics. Mutations in this gene result in several forms of juvenile lateral sclerosis and infantile-onset ascending spastic paralysis. Multiple transcript variants encoding different isoforms have been found for this gene.