Recombinant Human ALS2 cell lysate

• Cat.No.: ALS2-66HCL

Specification

• Description: 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.
• Species: Human
• Size: 100 ul
• Storage Buffer: 1X Sample Buffer (50 mM Tris-HCl, 2% SDS, 10% glycerol, 300 mM 2-mercaptoethanol, 0.01% Bromophenol blue)
• Applications: Western Blot

Gene Information

• Gene Name: ALS2 amyotrophic lateral sclerosis 2 (juvenile) [ Homo sapiens ]
• Official Symbol: ALS2
• 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 protein; ALSJ; PLSJ; IAHSP; ALS2CR6; FLJ31851; KIAA1563; MGC87187
• Gene ID: 57679
• mRNA Refseq: NM_001135745
• Protein Refseq: NP_001129217
• MIM: 606352
• UniProt ID: Q96Q42
• Chromosome Location: 2q33-q35
• Pathway: Amyotrophic lateral sclerosis (ALS), organism-specific biosystem; Amyotrophic lateral sclerosis (ALS), conserved biosystem
• Function: Rab GTPase binding; Rab GTPase binding; Rab guanyl-nucleotide exchange factor activity; Rac guanyl-nucleotide exchange factor activity; Ran guanyl-nucleotide exchange factor activity; contributes_to guanyl-nucleotide exchange factor activity; protein homodimerization activity; protein serine/threonine kinase activator activity