肌萎缩侧索硬化蛋白2抗体

英文名称  Anti-PLSJ/ALS2/Alsin  

中文名称  肌萎缩侧索硬化蛋白2抗体 

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 chromosomal region candidate gene 6 protein; Amyotrophic lateral sclerosis 2 protein; Amyotrophic lateral sclerosis protein 2; FLJ31851; IAHSP; KIAA1563; MGC87187; PLSJ. 

浓    度  1mg/1ml 

规 格  0.2ml/200μg 

抗体来源  Rabbit  

克隆类型  polyclonal 

交叉反应  Human, Mouse, Rat, Dog, Pig, Cow, Horse, Rabbit, Sheep   

肌萎缩侧索硬化蛋白2抗体产品类型  一抗    

研究领域  细胞生物 神经生物学 Alzheimer's  

蛋白分子量  predicted molecular weight: 184kDa 

性    状  Lyophilized or Liquid 

免 疫 原  KLH conjugated synthetic peptide derived from human ALS2 (1384-1440aa) 

亚    型  IgG 

纯化方法  affinity purified by Protein A 

储 存 液  Preservative: 15mM Sodium Azide, Constituents: 1% BSA, 0.01M PBS, pH 7.4 

产品应用   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.  

保存条件  Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. The lyophilized antibody is stable at room temperature for at least one month and for greater than a year when kept at -20°C. When reconstituted in sterile pH 7.4 0.01M PBS or diluent of antibody the antibody is stable for at least two weeks at 2-4 °C. 

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抗体产品介绍 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.

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 : UniProtKB/Swiss-Prot: Q96Q42.2