Synthesized peptide derived from human protein . at AA range: 390-470

ALS2 Polyclonal Antibody detects endogenous levels of protein.

ALS2 ALS2CR6 KIAA1563

Alsin (Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 6 protein) (Amyotrophic lateral sclerosis 2 protein)

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],

Disease:Defects in ALS2 are the cause of amyotrophic lateral sclerosis type 2 (ALS2) [MIM:205100]. 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.,Disease:Defects in ALS2 are the cause of infantile-onset ascending spastic paralysis (IAHSP) [MIM:607225]. IAHSP is characterized by progressive spasticity and weakness of limbs.,Disease:Defects in ALS2 are the cause of juvenile primary lateral sclerosis (JPLS) [MIM:606353]. 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.,Function:May act as a GTPase regulator. Controls survival and growth of spinal motoneurons.,online information:ALS genetic mutations db,PTM:Phosphorylated upon DNA damage, probably by ATM or ATR.,similarity:Contains 1 DH (DBL-homology) domain.,similarity:Contains 1 PH domain.,similarity:Contains 1 VPS9 domain.,similarity:Contains 5 RCC1 repeats.,similarity:Contains 8 MORN repeats.,subunit:Forms a heteromeric complex with ALS2CL. Interacts with ALS2CL.,

ruffle,early endosome,centrosome,cytosol,postsynaptic density,membrane,lamellipodium,axon,dendrite,growth cone,vesicle,neuronal cell body,dendritic spine,intracellular membra

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>>Pathways of neurodegeneration - multiple diseases