STXBP1 wt Allele

Preferred Label : STXBP1 wt Allele;

NCIt synonyms : NSEC1; UNC18A; DEE4; RBSEC1; UNC18; P67; Neuronal SEC1 Gene; unc18-1; unc-18A; UNC18, C. elegans, Homolog of Gene; N-Sec1; Syntaxin Binding Protein 1 wt Allele; MUNC18-1; HUNC18;

NCIt 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.;

NCI Metathesaurus CUI : CL1904773;

GenBank Accession Number : AF004563;

Details

Origin ID

C191378;

UMLS CUI

C5780741;

OMIM relation
- Syntaxin-binding protein 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 9q34.11 [NCIt concept]
gene_is_element_in_pathway
- Botulinum Toxin Pathway [NCIt concept]
gene_plays_role_in_process
- Exocytosis [NCIt concept]
- Ligand Binding [NCIt concept]
- Neuronal Transmission [NCIt concept]
- Transport Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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