STXBP1 syntaxin binding protein 1 [ Homo sapiens (human) ] - Gene - Data resources

6812

STXBP1 syntaxin binding protein 1 [ Homo sapiens (human) ]
Source: NCBI Gene (ID 6812)

Symbol: STXBP1

Full name: syntaxin binding protein 1

Gene type: protein coding

RefSeq status: REVIEWED

Also known as: DEE4; MUNC18-1; N-Sec1; NSEC1; P67; RBSEC1; UNC18; unc-18A; unc18-1

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

Orthologs: mouse

Gene size: 84118bp

Exon count: 25