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Rabbit Anti-VPS13B/Cy7 Conjugated antibody (bs-12765R-Cy7)
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說 明 書: 100ul  
100ul/2980.00元
大包裝/詢價
產品編號 bs-12765R-Cy7
英文名稱1 Rabbit Anti-VPS13B/Cy7 Conjugated antibody
中文名稱 Cy7標記的液泡蛋白分選蛋白13B抗體
別    名 CHS1; COH1; Cohen syndrome protein 1; Vacuolar protein sorting 13 homolog B (yeast); Vacuolar protein sorting-associated protein 13B; VP13B_HUMAN; vps13B.  
規格價格 100ul/2980元 購買        大包裝/詢價
說 明 書 100ul  
研究領域 細胞生物  發育生物學  信號轉導  淋巴細胞  b-淋巴細胞  
抗體來源 Rabbit
克隆類型 Polyclonal
交叉反應 (predicted: Human, Mouse, Rat, )
產品應用
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.
分 子 量 449kDa
性    狀 Lyophilized or Liquid
濃    度 1mg/ml
免 疫 原 KLH conjugated synthetic peptide derived from human VPS13B
亞    型 IgG
純化方法 affinity purified by Protein A
儲 存 液 0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol.
保存條件 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.
產品介紹 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, 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.

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.
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