K116945P Anti-ALS2 Polyclonal

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.