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Rabbit Anti-VPS13B  antibody (bs-12765R)  
~~~促銷(xiāo)代碼KT202411~~~
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說(shuō)明書(shū): 50ul  100ul  200ul
50ul/1180.00元
100ul/1980.00元
200ul/2800.00元
大包裝/詢(xún)價(jià)
產(chǎn)品編號(hào) bs-12765R
英文名稱(chēng) Rabbit Anti-VPS13B  antibody
中文名稱(chēng) 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.  
研究領(lǐng)域 細(xì)胞生物  發(fā)育生物學(xué)  信號(hào)轉(zhuǎn)導(dǎo)  淋巴細(xì)胞  b-淋巴細(xì)胞  
抗體來(lái)源 Rabbit
克隆類(lèi)型 Polyclonal
交叉反應(yīng) (predicted: Human,Mouse,Rat)
產(chǎn)品應(yīng)用 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 449kDa
細(xì)胞定位 細(xì)胞核 細(xì)胞漿 細(xì)胞膜 
性    狀 Liquid
濃    度 1mg/ml
免 疫 原 KLH conjugated synthetic peptide derived from human VPS13B: 1401-1500/4022 
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(xiàng) This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
PubMed PubMed
產(chǎn)品介紹 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

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



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