功能： 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.,
功能： 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.,
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