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als2

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Official Full Name
amyotrophic lateral sclerosis 2 (juvenile)
Background
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.
Synonyms
ALS2; amyotrophic lateral sclerosis 2 (juvenile); ALS2CR6, amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 6; alsin; amyotrophic lateral sclerosis 2 protein; amyotrophic lateral sclerosis 2 chromosomal region candidate gene 6 prot; amyotrophic lateral sclerosis 2 chromosomal region candidate gene 6 protein; ALSJ; PLSJ; IAHSP; ALS2CR6; FLJ31851; KIAA1563; MGC87187