STXBP1 syntaxin binding protein 1
Gene ID: 6812, updated on 7-Apr-2024Gene type: protein coding
Also known as: P67; DEE4; NSEC1; UNC18; N-Sec1; RBSEC1; unc-18A; unc18-1; MUNC18-1
- See all available tests in GTR for this gene
- Go to complete Gene record for STXBP1
- Go to Variation Viewer for STXBP1 variants
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Developmental and epileptic encephalopathy, 4 | See labs |
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity No evidence available (Last evaluated 2013-06-20) ClinGen Genome Curation PageHaploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2013-06-20) ClinGen Genome Curation PagePubMed |
Genomic context
- Location:
- 9q34.11
- Sequence:
- Chromosome: 9; NC_000009.12 (127611912..127696029)
- Total number of exons:
- 25
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for STXBP1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- STXBP1 database
- Variation ViewerRelated Variants
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