Alsin; Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 6 protein; Amyotrophic lateral sclerosis 2 protein; ALS2; ALS2CR6; KIAA1563

For Research Use Only. Not for use in diagnostic procedures.

Polyclonal

Rabbit Ig

Rabbit

This ALS2 antibody is generated from rabbits immunized with a KLH conjugated synthetic peptide between 1248-1277 amino acids from the C-terminal region of human ALS2.

Purified Rabbit Polyclonal Antibody (Pab)

Purified polyclonal antibody supplied in PBS with 0.09% (W/V) sodium azide. This antibody is prepared by Saturated Ammonium Sulfate (SAS) precipitation followed by dialysis against PBS.

Vial Concentration: 2 (lot specific)

Maintain refrigerated at 2-8 degree C for up to 6 months. For long term storage store at -20 degree C in small aliquots to prevent freeze-thaw cycles.

Small volumes of anti-ALS2 antibody vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

ALS2 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 its gene result in several forms of juvenile lateral sclerosis and infantile-onset ascending spastic paralysis.

Neuroscience; Amyotrophic Lateral Sclerosis (ALS); Phospho Antibodies

Western Blot (WB), ELISA (EIA), Immunohistochemistry (IHC)

WB~~1:1000

Western blot analysis of ALS2 antibody (C-term) in mouse lung tissue lysates (35ug/lane). ALS2 (arrow) was detected using the purified Pab.

ALS2 Antibody (C-term) (RB18853) IHC analysis in formalin fixed and paraffin embedded human brain tissue followed by peroxidase conjugation of the secondary antibody and DAB staining. This data demonstrates the use of the ALS2 Antibody (C-term) for immunohistochemistry. Clinical relevance has not been evaluated.

183634

amyotrophic lateral sclerosis 2 (juvenile)

alsin

Alsin

ALS2CR6; KIAA1563??[Similar Products]

ALS2_HUMAN

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]

ALS2: May act as a GTPase regulator. Controls survival and growth of spinal motoneurons. Defects in ALS2 are the cause of amyotrophic lateral sclerosis type 2 (ALS2). ALS2 is a familial form of amyotrophic lateral sclerosis, a neurodegenerative disorder affecting upper and lower motor neurons and resulting in fatal paralysis. Sensory abnormalities are absent. Death usually occurs within 2 to 5 years. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of cases leading to familial forms. Defects in ALS2 are the cause of juvenile primary lateral sclerosis (JPLS). JPLS is a neurodegenerative disorder which is closely related to but clinically distinct from amyotrophic lateral sclerosis. It is a progressive paralytic disorder which results from dysfunction of the upper motor neurons of the motor cortex while the lower neurons are unaffected. Defects in ALS2 are the cause of infantile-onset ascending spastic paralysis (IAHSP). IAHSP is characterized by progressive spasticity and weakness of limbs. 3 isoforms of the human protein are produced by alternative splicing.

Protein type: GEFs, Rab; GEFs

Chromosomal Location of Human Ortholog: 2q33.1

Cellular Component: ruffle; centrosome; growth cone; protein complex; lamellipodium; early endosome; postsynaptic density; dendrite; dendritic spine; cytosol; vesicle

Molecular Function: protein serine/threonine kinase activator activity; protein binding; protein homodimerization activity; Ran guanyl-nucleotide exchange factor activity; Rac guanyl-nucleotide exchange factor activity; guanyl-nucleotide exchange factor activity; Rab guanyl-nucleotide exchange factor activity; Rab GTPase binding

Biological Process: receptor recycling; synaptic transmission, glutamatergic; protein localization; behavioral fear response; regulation of endosome size; endosome organization and biogenesis; vesicle organization and biogenesis; positive regulation of protein kinase activity; locomotory behavior; response to oxidative stress; endosome transport; neurite morphogenesis; neuromuscular junction development

Disease: Amyotrophic Lateral Sclerosis 2, Juvenile; Primary Lateral Sclerosis, Juvenile; Spastic Paralysis, Infantile-onset Ascending

Soares,D.C., J Mol Model 15 (2), 113-122 (2009)
Mintchev,N., Neurology 72 (1), 28-32 (2009)

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