基因名:
STXBP1
产品别名:
DEE4; MUNC18-1; N-Sec1; NSEC1; P67; RBSEC1; UNC18; unc-18A; unc18-1; STXBP1; syntaxin binding protein 1; syntaxin binding protein 1; syntaxin-binding protein 1; neuronal SEC1; protein unc-18 homolog 1; protein unc-18 homolog A; 神经突触前膜胞内蛋白18;
背景信息:
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]