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上海岚派生物科技有限公司 > 产品类别 > 抗体 > 标记一抗 >
FITC标记的肌萎缩侧索硬化蛋白2抗体
- 品名：
- FITC标记的肌萎缩侧索硬化蛋白2抗体
- 货号：
- DL-1188
- 英文：
- Anti-ALS2/FITC
- 英文缩写：
background:
Mutations in the ALS2 gene result in a number of juvenile recessive motor neuron diseases (MNDs), including juvenile primary lateral sclerosis (JPLS), a recessive form of amyotrophic lateral sclerosis (ALS2); infantile onset ascending hereditary spastic paralysis (IAHSP); and a form of complicated hereditary spastic paraplegia (cHSP). The ALS2 gene encodes the Alsin protein. Alsin acts as a guanine nucleotide exchange factor for Rab5, a modulator of the endocytic pathway. Alsin is a cytosolic protein that is associated with small, punctate membrane structures. Therefore, Alsin may mediate membrane transport events, potentially linking endocytic processes and actin cytoskeleton remodeling. The ALS2 C-terminal-like protein (ALS2CL) also modulates Rab 5 activity.
Function:
May act as a GTPase regulator. Controls survival and growth of spinal motoneurons.
Subunit:
Forms a heteromeric complex with ALS2CL. Interacts with ALS2CL.
Post-translational modifications:
Phosphorylated upon DNA damage, probably by ATM or ATR.
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. 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.
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.
