C191378Level 5
STXBP1 wt Allele
**Semantic type:** Gene or Genome
**Definition:** Human STXBP1 wild-type allele is located in the vicinity of 9q34.11 and is approximately 117 kb in length. This allele, which encodes syntaxin-binding protein 1, plays a role in the release of neurotransmitters and synaptic vesicle transport. Mutation of the gene is associated with developmental and epileptic encephalopathy 4.
**Synonyms:** - DEE4 - HUNC18 - MUNC18-1 - N-Sec1 - NSEC1 - NSec1 - Neuronal SEC1 Gene - P67 - RBSEC1 - Syntaxin Binding Protein 1 wt Allele - UNC18 - UNC18, C. elegans, Homolog of Gene - UNC18A - unc-18A - unc18-1
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