STXBP1, Official Symbol STXBP1provided by HGNC Official Full Name syntaxin binding protein 1provided by HGNC Primary source HGNC:HGNC:11444 See related Ensembl:ENSG00000136854 MIM:602926; AllianceGenome:HGNC:11444 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as P67; DEE4; NSEC1; UNC18; N-Sec1; RBSEC1; unc-18A; unc18-1; MUNC18-1 Summary 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] Expression Biased expression in brain (RPKM 151.7), adrenal (RPKM 16.3) and 6 other tissues See more Orthologs mouse all