Entrez gene ID | | 57679 |
Official gene symbol | | ALS2 |
Full name | | amyotrophic lateral sclerosis 2 (juvenile) |
Aliases | | ,ALS2CR6,ALSJ,FLJ31851,IAHSP,KIAA1563,MGC87187,PLSJ, |
Gene 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] |
Location | | Chromosome: 2 Locus: 2q33.1 |
Gene position | | 202645895 - 202564986 Map Viewer |
Gene orientation | | minus |
Gene size | | 80910 bp |
Gene sequence |
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OMIM ID | | 606352 |
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