ALS2, Polyclonal Antibody

Anti -ALS2, CT (Alsin, Amyotrophic Lateral Sclerosis Protein 2, Amyotrophic Lateral Sclerosis 2 Chromosomal Region Candidate Gene 6 Protein, KIAA1563, ALS2CR6)

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

Chromosome: 2; NC_000002.11 (202564986..202645895, complement). Location: 2q33.1

Polyclonal

IgG

Rabbit

Recognizes human ALS2. Species Crossreactivity: mouse.

Purified
Purified by ammonium sulfate precipitation.

Supplied as a liquid in PBS, 0.09% sodium azide.

May be stored at 4 degree C for short-term only. Aliquot to avoid repeated freezing and thawing. Store at -20 degree C. Aliquots are stable for at least 12 months. For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap.

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.

Antibodies; Abs to Disease Markers

ELISA (EL/EIA), Western Blot (WB)

Suitable for use in ELISA and Western Blot.
Dilution: ELISA: 1:1,000
Western Blot: 1:50-1:100

183,634 Da[Similar Products]

amyotrophic lateral sclerosis 2 (juvenile)

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

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; dendrite; early endosome; postsynaptic density; 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; behavioral fear response; endosome organization and biogenesis; vesicle organization and biogenesis; locomotory behavior; endosome transport; protein localization; regulation of endosome size; positive regulation of protein kinase activity; response to oxidative stress; neuromuscular junction development; neurite morphogenesis

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

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