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
Synthetic peptide directed towards the middle region of human STXBP1
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.
Sequence
Synthetic peptide located within the following region: TRSSASFSTTAVSARYGHWHKNKAPGEYRSGPRLIIFILGGVSLNEMRCA
Physical form
Purified antibody supplied in 1x PBS buffer with 0.09% (w/v) sodium azide and 2% sucrose.
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