推荐产品
生物源
mouse
共軛
unconjugated
抗體表格
purified immunoglobulin
抗體產品種類
primary antibodies
無性繁殖
6D1, monoclonal
形狀
buffered aqueous solution
物種活性
human, mouse, rat
技術
immunohistochemistry (formalin-fixed, paraffin-embedded sections): suitable
indirect ELISA: suitable
western blot: 1-5 μg/mL
同型
IgG2aκ
GenBank登錄號
UniProt登錄號
運輸包裝
dry ice
儲存溫度
−20°C
目標翻譯後修改
unmodified
基因資訊
human ... STXBP1(6812)
一般說明
The gene STXBP1 (syntaxin binding protein 1) is mapped to human chromosome 9q34.1. The encoded protein is 594 amino acids long, which is expressed in all tissues with highest levels in retina and cerebellum.
免疫原
STXBP1 (NP_003156, 74 a.a. ~ 168 a.a) partial recombinant protein with GST tag. MW of the GST tag alone is 26 KDa.
Sequence
VYLITPSEKSVHSLISDFKDPPTAKYRAAHVFFTDSCPDALFNELVKSRAAKVIKTLTEINIAFLPYESQVYSLDSADSFQSFYSPHKAQMKNPI
Sequence
VYLITPSEKSVHSLISDFKDPPTAKYRAAHVFFTDSCPDALFNELVKSRAAKVIKTLTEINIAFLPYESQVYSLDSADSFQSFYSPHKAQMKNPI
生化／生理作用
The gene STXBP1 (syntaxin binding protein 1) encodes a regulatory protein of the components of the SNARE (soluble NSF/ N-ethylmaleimide-sensitive factor attachment protein receptor) complex that are crucial for neurotransmission. It is a neuronal protein that functions in synaptic vesicle release. Mutations in this gene have been associated with early infantile epileptic encephalopathy. It causes autosomal dominant mental retardation and nonsyndromic epilepsy.
外觀
Solution in phosphate buffered saline, pH 7.4
法律資訊
GenBank is a registered trademark of United States Department of Health and Human Services
免責聲明
Unless otherwise stated in our catalog or other company documentation accompanying the product(s), our products are intended for research use only and are not to be used for any other purpose, which includes but is not limited to, unauthorized commercial uses, in vitro diagnostic uses, ex vivo or in vivo therapeutic uses or any type of consumption or application to humans or animals.
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儲存類別代碼
10 - Combustible liquids
閃點（°F）
Not applicable
閃點（°C）
Not applicable
個人防護裝備
Eyeshields, Gloves, multi-purpose combination respirator cartridge (US)
D A Swanson et al.
Genomics, 48(3), 373-376 (1998-04-18)
In a screen designed to identify genes expressed preferentially in retina, we identified a cDNA encoding the human ortholog of rat STXBP1 (n-Sec1, Munc-18-1, rbSec1), a protein implicated in vesicle trafficking and neurotransmitter release. This protein also has similarity to
Hirotomo Saitsu et al.
Nature genetics, 40(6), 782-788 (2008-05-13)
Early infantile epileptic encephalopathy with suppression-burst (EIEE), also known as Ohtahara syndrome, is one of the most severe and earliest forms of epilepsy. Using array-based comparative genomic hybridization, we found a de novo 2.0-Mb microdeletion at 9q33.3-q34.11 in a girl
Fadi F Hamdan et al.
Annals of neurology, 65(6), 748-753 (2009-06-27)
We sequenced genes coding for components of the SNARE complex (STX1A, VAMP2, SNAP25) and their regulatory proteins (STXBP1/Munc18-1, SYT1), which are essential for neurotransmission, in 95 patients with idiopathic mental retardation. We identified de novo mutations in STXBP1 (nonsense, p.R388X;
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