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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.
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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.
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.SequenceVYLITPSEKSVHSLISDFKDPPTAKYRAAHVFFTDSCPDALFNELVKSRAAKVIKTLTEINIAFLPYESQVYSLDSADSFQSFYSPHKAQMKNPI
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Physical form
Solution in phosphate buffered saline, pH 7.4
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