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ALS2 / Alsin 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.
Gene Name: | amyotrophic lateral sclerosis 2 (juvenile) |
Synonyms: | ALS2, ALS2CR6, ALSJ, IAHSP, Alsin, PLSJ, KIAA1563 |
Target Sequences: | NM_020919 NP_065970.2 Q96Q42 |
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