STXBP1

protein-coding External Resolution
GeneCards NCBI PubMed

External Info (via mygene)

SymbolSTXBP1
Namesyntaxin binding protein 1
Typeprotein-coding
Sourcemygene

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].

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