Rabbit anti-Human, Mouse ALS2 Polyclonal Antibody | anti-ALS2 antibody
ALS2, CT (Alsin, Amyotrophic Lateral Sclerosis Protein 2, Amyotrophic Lateral Sclerosis 2 Chromosomal Region Candidate Gene 6 Protein, KIAA1563, ALS2CR6) (HRP)
ELISA: 1:1,000
Applications are based on unconjugated antibody.
Western Blot (WB)
(Western blot analysis of ALS2 antibody (C-term) in mouse lung tissue lysates (35ug/lane). ALS2 (arrow) was detected using the purified Pab.)
Immunohistochemistry (IHC)
(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.)
NCBI and Uniprot Product Information
NCBI Description
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]
Uniprot Description
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; GEFs, Rab
Chromosomal Location of Human Ortholog: 2q33.1
Cellular Component: ruffle; centrosome; protein complex; growth cone; lamellipodium; early endosome; dendrite; 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; 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