| ncRNA Symbol: | ALS2 | | Full Name: | ALS2, alsin Rho guanine nucleotide exchange factor | | Category: | mRNA | | Synonyms: | ALS2CR6|ALSJ|IAHSP|PLSJ | | Chromosome: | chr2 | | Strand: | - | | Coordinate: | | Start Site(bp): | 201700554 | End Site(bp): | 201781189 | | | 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, Oct 2008] | | External Links: | |
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