STXBP1( Human )
syntaxin binding protein 1
Alias
MUNC18-1|NSEC1|P67|RBSEC1|UNC18
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].