STX11 syntaxin 11
Gene ID: 8676, updated on 2-Nov-2024Gene type: protein coding
Also known as: FHL4; HLH4; HPLH4
- See all available tests in GTR for this gene
- Go to complete Gene record for STX11
- Go to Variation Viewer for STX11 variants
Summary
This gene encodes a member of the syntaxin family. Syntaxins have been implicated in the targeting and fusion of intracellular transport vesicles. This family member may regulate protein transport among late endosomes and the trans-Golgi network. Mutations in this gene have been associated with familial hemophagocytic lymphohistiocytosis. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Familial hemophagocytic lymphohistiocytosis 4 | See labs |
Genomic context
- Location:
- 6q24.2
- Sequence:
- Chromosome: 6; NC_000006.12 (144139963..144191939)
- Total number of exons:
- 7
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for STX11 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- CCHMC - Human Genetics Mutation Database
- 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
- STX11base: Mutation registry for Familial haemophagocytic lymphohistiocytosis 4 (FHL4)
- Variation ViewerRelated Variants
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