Gene Symbol | STXBP1 |
Entrez Gene ID | 6812 |
Full Name | syntaxin binding protein 1 |
Synonyms | MUNC18-1,NSEC1,P67,RBSEC1,UNC18 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Epileptic encephalopathy, early infantile, 4, 612164 (3) |