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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for STXBP1 (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID6812
Official gene symbolSTXBP1
Full namesyntaxin binding protein 1
Aliases,FLJ37475,MUNC18-1,NSEC1,P67,RBSEC1,UNC18,
Gene summaryThis 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]
LocationChromosome: 9   Locus: 9q34.1
Gene position130374486 - 130454995  Map Viewer
Gene orientationplus
Gene size80510 bp
Gene sequence
OMIM ID602926