产品货号 :  mlR12765

英文名称 :  VPS13B

中文名称 :  液泡蛋白分选蛋白13B抗体

别    名 :  CHS1; COH1; Cohen syndrome protein 1; Vacuolar protein sorting 13 homolog B (yeast); Vacuolar protein sorting-associated protein 13B; VP13B_HUMAN; vps13B.  

研究领域 :  细胞生物  发育生物学  信号转导  淋巴细胞  b-淋巴细胞  

抗体来源 :  Rabbit

克隆类型 :  Polyclonal

交叉反应 :  Human, Mouse, Rat,

产品应用 :  ELISA=1:500-1000 IHC-P=1:400-800 IHC-F=1:400-800 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 :  449kDa

细胞定位 :  细胞核 细胞浆 细胞膜

性    状 :  Lyophilized or Liquid

浓    度 :  1mg/ml

免 疫 原 :  KLH conjugated synthetic peptide derived from human VPS13B:1401-1500/4022

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.

PubMed :  PubMed

产品介绍 :  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, liver, and kidney, two transcripts of 2 and 5 kb are identified. These transcripts are also seen in all adult tissues analyzed. A larger transcript (12-14 kb) is expressed in prostate, testis, ovary, and colon in the adult. Expression is very low in adult 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 (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.

SWISS:

Q7Z7G8

Gene ID:

157680

Important Note:

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