液泡蛋白分选蛋白13B抗体
规格：1mg/1ml
英文名： VPS13B
别名： CHS1; COH1; Cohen syndrome protein 1; Vacuolar protein sorting 13 homolog B (yeast); Vacuolar protein sorting-associated protein 13B; VP13B_HUMAN; vps13B.
分子量： 97, 159kDa
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 VPS13B
交叉反应：Human, Mouse, Rat,
细胞定位：细胞浆
液泡蛋白分选蛋白13B抗体产品介绍：background: This gene encodes a potential transmembrane protein that may function in vesicle-mediated transport and sorting of proteins within the cell. This protein may play a role in the development and the function of the eye, hematological system, and central nervous system. Mutations in this gene have been associated with Cohen syndrome. Multiple splice variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] Function: May be involved in protein sorting in post Golgi membrane traffic. Tissue Specificity: Widely expressed. There is apparent differential expression of different transcripts. In fetal brain, lung,液泡蛋白分选蛋白13B抗体 liver, and kidney, two transcripts of 2 and 5 kb are identified. These transcripts are also seen in all ***** tissues analyzed. A larger transcript (12-14 kb) is expressed in prostate, testis, ovary, and colon in the *****. Expression is very low in ***** brain tissue. Isoform 1 and isoform 2 are expressed in brain and retina. Isoform 2 is expressed ubiquitously. DISEASE: Defects in VPS13B are a cause of Cohen syndrome 液泡蛋白分选蛋白13B抗体(COH1) [MIM:216550]. COH1 is a rare autosomal recessive disorder characterized by obesity, hypotonia, intellectual deficit, characteristic craniofacial dysmorphism and abnormalities of the hands and feet. Characteristic facial features include high-arched or wave-shaped eyelids, a short philtrum, thick hair and low hairline. Similarity: Belongs to the VPS13 family. Database links: Entrez Gene: 157680 Human Entrez Gene: 666173 Mouse Entrez Gene: 315036 Rat Omim: 607817 Human SwissProt: Q7Z7G8 Human SwissProt: Q80TY5 Mouse Unigene: 191540 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13B抗体产品应用：WB=1:100-500 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 发育生物学 信号转导 **细胞 b-**细胞
储存条件： Store at -20 °C for one year. Avoid repeated freeze/thaw cycles.
来源： Rabbit
外观： Lyophilized or Liquid