Aliases for STXBP1 Gene
External Ids for STXBP1 Gene
Previous GeneCards Identifiers for STXBP1 Gene
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]
GeneCards Summary for STXBP1 Gene
STXBP1 (Syntaxin Binding Protein 1) is a Protein Coding gene. Diseases associated with STXBP1 include Epileptic Encephalopathy, Early Infantile, 4 and Epileptic Encephalopathy, Early Infantile, 15. Among its related pathways are Angiopoietin Like Protein 8 Regulatory Pathway and Transmission across Chemical Synapses. Gene Ontology (GO) annotations related to this gene include protein kinase binding. An important paralog of this gene is STXBP2.
UniProtKB/Swiss-Prot for STXBP1 Gene
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.