STXBP1 Rabbit pAb

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. Synonyma: P67, DEE4, NSEC1, UNC18, N-Sec1, RBSEC1, unc-18A, unc18-1, MUNC18-1, STXBP1