NCBI Description of STXBP1
|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.|
Community Annotation of STXBP1 Add / Edit STXBP1: Annotations
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