ALS2,肌萎缩侧索硬化蛋白2抗体

产品编号HZ-11709R
英文名称ALS2
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.
说 明 书0.1ml 0.2ml
研究领域细胞生物 神经生物学 Alzheimer's
抗体来源Rabbit
克隆类型Polyclonal
ALS2,肌萎缩侧索硬化蛋白2抗体交叉反应Human, Mouse, Rat, Dog, Pig, Cow, Horse, Rabbit, Sheep,
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.
分 子 量184kDa
性 状Lyophilized or Liquid
浓 度1mg/1ml
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0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol.
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.
ALS2,肌萎缩侧索硬化蛋白2抗体PubMedPubMed
产品介绍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. 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.

ALS2,肌萎缩侧索硬化蛋白2抗体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:
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.