May act as a GTPase regulator. Controls survival and growth of spinal motoneurons (By similarity).
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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: centrosome; cytosol; dendrite; early endosome; growth cone; lamellipodium; protein complex; ruffle; vesicle
Molecular Function: guanyl-nucleotide exchange factor activity; protein binding; protein homodimerization activity; protein serine/threonine kinase activator activity; Rab GTPase binding; Rab guanyl-nucleotide exchange factor activity; Rac guanyl-nucleotide exchange factor activity
Biological Process: endosome organization and biogenesis; neurite morphogenesis; positive regulation of GTPase activity; positive regulation of protein kinase activity; positive regulation of Rac protein signal transduction; regulation of endosome size
Disease: Amyotrophic Lateral Sclerosis 2, Juvenile; Primary Lateral Sclerosis, Juvenile; Spastic Paralysis, Infantile-onset Ascending
Has guanine nucleotide exchange factor (GEF) activity towards Rab5. Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab5 into its active GTP-bound form.
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