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Chorein Rabbit pAb (bs-13922R)  
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產品編號 bs-13922R
英文名稱 Chorein Rabbit pAb
中文名稱 液泡蛋白分選蛋白VPS13A抗體
別    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.  
研究領域 細胞生物  神經生物學  信號轉導  
抗體來源 Rabbit
克隆類型 Polyclonal
克 隆 號
交叉反應 (predicted: Human,Mouse,Rat,Sheep,Cow,Horse)
產品應用 IHC-P=1:100-500,IHC-F=1:100-500,IF=1:100-500,ICC/IF=1:100-500,ELISA=1:5000-10000
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.
理論分子量 360 kDa
檢測分子量
細胞定位 細胞漿 
性    狀 Liquid
濃    度 1mg/ml
免 疫 原 KLH conjugated synthetic peptide derived from human Chorein: 3001-3174/3174 
亞    型 IgG
純化方法 affinity purified by Protein A
緩 沖 液 0.01M TBS (pH7.4) with 1% BSA, 0.02% Proclin300 and 50% Glycerol.
保存條件 Shipped at 4℃. Store at -20℃ for one year. Avoid repeated freeze/thaw cycles.
注意事項 This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
PubMed PubMed
產品介紹 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.

SWISS:
Q96RL7

Gene ID:
23230

Database links:

Entrez Gene: 23230 Human

Omim: 605978 Human

SwissProt: Q96RL7 Human

Unigene: 459790 Human



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