STXBP1, UNC18A, Syntaxin-binding protein 1, MUNC18-1, N-Sec1, Protein unc-18 homolog 1, Unc18-1, Protein unc-18 homolog A, Unc-18A, p67
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],disease:Defects in STXBP1 are the cause of early infantile epileptic encephalopathy type 4 (EIEE4) [MIM:612164]. Affected individuals have neonatal or infantile onset of seizures, suppression-burst pattern on EEG, profound mental retardation, and MRI evidence of hypomyelination.,function: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.,similarity:Belongs to the STXBP/unc-18/SEC1 family.,subunit:Binds SYTL4 and STX1A.,tissue specificity:Brain and spinal cord. Highly enriched in axons.,
