Description
Syntaxin-binding protein 1, also known as Munc18-1, is a protein that in humans is encoded by the STXBP1 gene. By fluorescence in situ hybridization, the STXBP1 gene is mapped to chromosome 9q34.1. 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