Aliases for STXBP1 Gene
External Ids 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 ohtahara syndrome. Among its related pathways are Metabolism and Insulin Signaling. GO annotations related to this gene include identical protein binding and protein domain specific binding. An important paralog of this gene is STXBP3.
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