ALS2 Antibody (monoclonal) (M01)
Mouse monoclonal antibody raised against a partial recombinant ALS2.
|Application ||WB, E|
|Calculated MW||183634 Da|
|Other Names||Alsin, Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 6 protein, Amyotrophic lateral sclerosis 2 protein, ALS2, ALS2CR6, KIAA1563|
|Target/Specificity||ALS2 (AAH29174, 221 a.a. ~ 320 a.a) partial recombinant protein with GST tag. MW of the GST tag alone is 26 KDa.|
|Format||Clear, colorless solution in phosphate buffered saline, pH 7.2 .|
|Storage||Store at -20°C or lower. Aliquot to avoid repeated freezing and thawing.|
|Precautions||ALS2 Antibody (monoclonal) (M01) is for research use only and not for use in diagnostic or therapeutic procedures.|
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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.
Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. Rose JE, et al. Mol Med, 2010 Jul-Aug. PMID 20379614.A novel ALS2 splice-site mutation in a Cypriot juvenile-onset primary lateral sclerosis family. Mintchev N, et al. Neurology, 2009 Jan 6. PMID 19122027.An interrupted beta-propeller and protein disorder: structural bioinformatics insights into the N-terminus of alsin. Soares DC, et al. J Mol Model, 2009 Feb. PMID 19023603.Maternal uniparental heterodisomy with partial isodisomy of a chromosome 2 carrying a splice acceptor site mutation (IVS9-2A>T) in ALS2 causes infantile-onset ascending spastic paralysis (IAHSP). Herzfeld T, et al. Neurogenetics, 2009 Feb. PMID 18810511.Novel homozygous ALS2 nonsense mutation (p.Gln715X) in sibs with infantile-onset ascending spastic paralysis: the first cases from northwestern Europe. Verschuuren-Bemelmans CC, et al. Eur J Hum Genet, 2008 Nov. PMID 18523452.
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