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Rabbit Anti-Chorein/BF555 Conjugated antibody (bs-13922R-BF555)
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说 明 书: 100ul  
100ul/2980.00元
大包装/询价
产品编号 bs-13922R-BF555
英文名称 Rabbit Anti-Chorein/BF555 Conjugated antibody
中文名称 BF555标记的液泡蛋白分选蛋白VPS13A抗体
别    名 CHAC; Chorea acanthocytosis; Chorea acanthocytosis protein; FLJ42030; KIAA0986; Vacuolar protein sorting 13 homolog A (S. cerevisiae); Vacuolar protein sorting 13 homolog A; Vacuolar protein sorting 13A; Vacuolar protein sorting associated protein 13A; VPS 13A; VP13A_HUMAN; VPS13A.  
规格价格 100ul/2980元 购买        大包装/询价
说 明 书 100ul  
研究领域 细胞生物  神经生物学  信号转导  
抗体来源 Rabbit
克隆类型 Polyclonal
交叉反应 (predicted: Human, Mouse, Rat, Cow, Horse, Sheep, )
产品应用 ICC=1:50-200 IF=1:50-200 
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.
分 子 量 360kDa
性    状 Lyophilized or Liquid
浓    度 1mg/ml
免 疫 原 KLH conjugated synthetic peptide derived from human Chorein
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.
产品介绍 background:
Chorein may control steps in the cycling of proteins through the trans-Golgi network to endosomes, lysosomes and the plasma membrane. Mutations in this gene cause the autosomal recessive disorder chorea-acanthocytosis. Alternative splicing of this gene results in multiple transcript variants.

Function:
May play a role in the control of protein cycling through the trans-Golgi network to early and late endosomes, lysosomes and plasma membrane.

Tissue Specificity:
Widely expressed. Higher expression is found in brain, heart, skeletal muscle and kidney.

DISEASE:
Choreoacanthocytosis (CHAC) [MIM:200150]: An autosomal recessive neurodegenerative disorder characterized by the gradual onset of hyperkinetic movements and abnormal erythrocyte morphology. Basal ganglia atrophy in the brain is a pathological feature of the disease. Other clinical symptoms include psychiatric features, epilepsy, peripheral neuropathy, myopathy and oral self-mutilation. Note=The disease is caused by mutations affecting the gene represented in this entry.

Similarity:
Belongs to the VPS13 family.
Contains 10 TPR repeats.

Database links:

Entrez Gene: 23230 Human

Omim: 605978 Human

SwissProt: Q96RL7 Human

Unigene: 459790 Human



Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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