液泡蛋白分选蛋白VPS13A抗体
规格：1mg/1ml
英文名： Chorein
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 1
分子量： 360kDa
储存液：0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glyce
克隆类型：Polyclonal
亚型：IgG
纯化方法：affinity purified by Protein A
**原：KLH conjugated synthetic peptide derived from human Chorein
交叉反应：Human, Mouse, Rat, Cow, Horse, Sheep,
细胞定位：
液泡蛋白分选蛋白VPS13A抗体产品介绍：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液泡蛋白分选蛋白VPS13A抗体 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,液泡蛋白分选蛋白VPS13A抗体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. Gene ID: 23230 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.
液泡蛋白分选蛋白VPS13A抗体产品应用：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.
研究领域：细胞生物 神经生物学 信号转导
储存条件： Store at -20 °C for one year. Avoid repeated freeze/thaw cycles.
来源： Rabbit
外观： Lyophilized or Liquid