|Application ||IHC, E|
|Other Accession||NP_065970, 57679|
|Predicted||Mouse, Rat, Dog, Cow|
|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|
|Format||0.5 mg IgG/ml in Tris saline (20mM Tris pH7.3, 150mM NaCl), 0.02% sodium azide, with 0.5% bovine serum albumin|
|Storage||Maintain refrigerated at 2-8°C for up to 6 months. For long term storage store at -20°C in small aliquots to prevent freeze-thaw cycles.|
|Precautions||Goat Anti-Alsin / ALS2 Antibody is for research use only and not for use in diagnostic or therapeutic procedures.|
|Function||May act as a GTPase regulator. Controls survival and growth of spinal motoneurons (By similarity).|
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Provided below are standard protocols that you may find useful for product applications.
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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