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Key Documents

WH0006812M1

Sigma-Aldrich

Monoclonal Anti-STXBP1 antibody produced in mouse

clone 6D1, purified immunoglobulin, buffered aqueous solution

Sinónimos:

Anti-MUNC181, Anti-UNC18, Anti-hUNC18, Anti-rbSec1, Anti-syntaxin binding protein 1

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About This Item

MDL number:
UNSPSC Code:
12352203
NACRES:
NA.41

biological source

mouse

conjugate

unconjugated

antibody form

purified immunoglobulin

antibody product type

primary antibodies

clone

6D1, monoclonal

form

buffered aqueous solution

species reactivity

human, mouse, rat

technique(s)

immunohistochemistry (formalin-fixed, paraffin-embedded sections): suitable
indirect ELISA: suitable
western blot: 1-5 μg/mL

isotype

IgG2aκ

GenBank accession no.

UniProt accession no.

shipped in

dry ice

storage temp.

−20°C

target post-translational modification

unmodified

Gene Information

human ... STXBP1(6812)

General description

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.

Immunogen

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

Biochem/physiol Actions

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.

Physical form

Solution in phosphate buffered saline, pH 7.4

Legal Information

GenBank is a registered trademark of United States Department of Health and Human Services

Disclaimer

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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Storage Class

10 - Combustible liquids

flash_point_f

Not applicable

flash_point_c

Not applicable

ppe

Eyeshields, Gloves, multi-purpose combination respirator cartridge (US)


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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
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;
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

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