肌萎缩侧索硬化蛋白2抗体
规格：1尘驳/1尘濒
英文名： ALS2
别名： ALS 2; ALS2; ALS2_HUMAN; ALS2CR6; Alsin; ALSJ; Amyotrophic lateral sclerosis 2 (juvenile); Amyotrophic lateral sclerosis 2 (juvenile) chromosome region candidate 6; Amyotrophic lateral sclerosis 2 chr
分子量： 184kDa
储存液：0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glyce
克隆类型：笔辞濒测肠濒辞苍补濒
亚型：滨驳骋
纯化方法：affinity purified by Protein A
**原：KLH conjugated synthetic peptide derived from human ALS2 (13
交叉反应：Human, Mouse, Rat, Dog, Pig, Cow, Horse, Rabbit, Sheep,
细胞定位：
肌萎缩侧索硬化蛋白2抗体产物介绍：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. 肌萎缩侧索硬化蛋白2抗体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肌萎缩侧索硬化蛋白2抗体 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. Similarity: Contains 1 DH (DBL-homology) domain. Contains 8 MORN repeats. Contains 1 PH domain. Contains 5 RCC1 repeats. Contains 1 VPS9 domain. Database links: Entrez Gene: 57679 Human Entrez Gene: 363235 Rat GenBank: NM_020919 Human Omim: 606352 Human SwissProt: Q96Q42 Human SwissProt: P0C5Y8 Rat Unigene: 471096 Human Unigene: 621812 Human Unigene: 219733 Rat Important Note: This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
肌萎缩侧索硬化蛋白2抗体产物应用：ELISA=1:500-1000 IHC-P=1:100-500 IHC-F=1:100-500 ICC=1:100-500 IF=1:100-500 （石蜡切片需做抗原修复） not yet tested in other applications. optimal dilutions/concentrations should be determined by the end user.
研究领域：细胞生物 神经生物学 Alzheimer's
储存条件： Store at -20 °C for one year. Avoid repeated freeze/thaw cycles.
来源： Rabbit
外观： Lyophilized or Liquid