Phospho-Unc18-1 (S313) Polyclonal Antibody, 100µg, (ATB-P0311)

Description

Background:

This gene encodes a syntaxin-binding protein. The encoded protein appears to play a role in release of neurotransmitters via regulation of syntaxin, a transmembrane attachment protein receptor. Mutations in this gene have been associated with infantile epileptic encephalopathy-4. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010]

May participate in the regulation of synaptic vesicle docking and fusion, possibly through interaction with GTP-binding proteins. Essential for neurotransmission and binds syntaxin, a component of the synaptic vesicle fusion machinery probably in a 1:1 ratio. Can interact with syntaxins 1, 2, and 3 but not syntaxin 4. May play a role in determining the specificity of intracellular fusion reactions.

Product datasheet:

Overview
Product Description	Phospho-Unc18-1 (S313) Polyclonal Antibody, 100µg, (ATB-P0311)
Image
Species Reactivities	Human,Mouse,Rat,Monkey
Immunogen	Synthesized peptide derived from human Unc18-1 around the phosphorylation site of S313.
Properties
Form	Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
Storage Instructions	-20°C/1 year
Clonality	Polyclonal

References:

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2. Early epileptic encephalopathies associated with STXBP1 mutations: Could we better delineate the phenotype? Barcia G, et al. Eur J Med Genet, 2014 Jan. PMID 24189369
3. Reduction of seizure frequency after epilepsy surgery in a patient with STXBP1 encephalopathy and clinical description of six novel mutation carriers. Weckhuysen S, et al. Epilepsia, 2013 May. PMID 23409955
4. Munc18-1 controls SNARE protein complex assembly during human sperm acrosomal exocytosis. Rodríguez F, et al. J Biol Chem, 2012 Dec 21. PMID 23091057 Free PMC Article
5. Association of genomic deletions in the STXBP1 gene with Ohtahara syndrome. Saitsu H, et al. Clin Genet, 2012 Apr. PMID 22211739
6. A murine neural-specific homolog corrects cholinergic defects in Caenorhabditis elegans unc-18 mutants.
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   Nature 429:369-374(2004) [PubMed] [Europe PMC]

   Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].

9. Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R.
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   Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases

   Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].

10. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Skin.