Gene Symbol | ALS2 |
Entrez Gene ID | 57679 |
Full Name | ALS2, alsin Rho guanine nucleotide exchange factor |
Synonyms | ALS2CR6,ALSJ,IAHSP,PLSJ |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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. [provided by RefSeq, Oct 2008]. |
Disorder MIM: | |
Disorder Html: | Amyotrophic lateral sclerosis 2, juvenile, 205100 (3); Primary lateral sclerosis, juvenile, 606353 (3); Spastic paralysis, infantile onset ascending, 607225 (3) |