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]
SKU | Test Kits | Buffer | Dye Color | Order Now |
---|---|---|---|---|
ALS2-20-RE | 20 (40 μL) | 200 μL | Request Pricing | |
ALS2-20-OR | 20 (40 μL) | 200 μL | Request Pricing | |
ALS2-20-GO | 20 (40 μL) | 200 μL | Request Pricing | |
ALS2-20-GR | 20 (40 μL) | 200 μL | Request Pricing | |
ALS2-20-AQ | 20 (40 μL) | 200 μL | Request Pricing |
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]
Gene Symbol : ALS2
Gene Name : ALS2, alsin Rho guanine nucleotide exchange factor
Chromosome : CHR 2: 201,781,171-201,700,262
Locus : 2q33.1
Alt. Genes : ZNF263
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