Syntaxin Binding Protein 1 (STXBP1)

STXBP1 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. predicted 68-kD n-Sec1 protein shares 27% identity with S. cerevisiae Sec1 and 59% identity with C. elegans Unc18. RNA blot analysis showed that n-Sec1 mRNA expression was neural-specific.The highest levels of expression were observed in retina and cerebellum.  This mRNA contains an additional exon and encodes a predicted 603-amino acid protein. Two alternatively spliced forms of STXBP1 are also found in rat, and the predicted proteins are identical to their human counterparts.