STX1B syntaxin 1B
Gene ID: 112755, updated on 11-Apr-2024Gene type: protein coding
Also known as: GEFSP9; STX1B1; STX1B2
- See all available tests in GTR for this gene
- Go to complete Gene record for STX1B
- Go to Variation Viewer for STX1B variants
Summary
The protein encoded by this gene belongs to a family of proteins thought to play a role in the exocytosis of synaptic vesicles. Vesicle exocytosis releases vesicular contents and is important to various cellular functions. For instance, the secretion of transmitters from neurons plays an important role in synaptic transmission. After exocytosis, the membrane and proteins from the vesicle are retrieved from the plasma membrane through the process of endocytosis. Mutations in this gene have been identified as one cause of fever-associated epilepsy syndromes. A possible link between this gene and Parkinson's disease has also been suggested. [provided by RefSeq, Jan 2015]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Generalized epilepsy with febrile seizures plus, type 9 | See labs |
| Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease. GeneReviews: Not available |
Genomic context
- Location:
- 16p11.2
- Sequence:
- Chromosome: 16; NC_000016.10 (30989256..31010638, complement)
- Total number of exons:
- 11
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for STX1B 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
- Variation ViewerRelated Variants
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