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

Monoclonal

IgG1 kappa

Affinity purified

Liquid

100ug/100ul (lot specific)

This product is stable for several weeks at 4 degree C as an undiluted liquid. Dilute only prior to immediate use. For extended storage, aliquot contents and freeze at -20 degree C or below. Avoid cycles of freezing and thawing. Expiration date is one (1) year from date of receipt.

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.

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.

Western Blot (WB)

86,782 Da

amyotrophic lateral sclerosis 2 (juvenile)

alsin; amyotrophic lateral sclerosis 2 chromosomal region candidate gene 6 protein; amyotrophic lateral sclerosis 2 protein

Alsin

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; guanyl-nucleotide exchange factor activity; Rac guanyl-nucleotide exchange factor activity; Rab guanyl-nucleotide exchange factor activity; Rab GTPase binding

Biological Process: receptor recycling; synaptic transmission, glutamatergic; protein localization; regulation of endosome size; behavioral fear response; endosome organization and biogenesis; positive regulation of protein kinase activity; vesicle organization and biogenesis; 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

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