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STXBP1
Official Full Name
syntaxin binding protein 1
Background
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.
Synonyms
Sec1; nSec1; NSEC1A; n-sec1; rbSec1; ANC18HA; Unc18-1; rbSec1A; rbSec1B; Munc18-1