TWIST1 twist family bHLH transcription factor 1
Gene ID: 7291, updated on 27-Nov-2024Gene type: protein coding
Also known as: CRS; CSO; SCS; ACS3; CRS1; BPES2; BPES3; SWCOS; TWIST; bHLHa38
- See all available tests in GTR for this gene
- Go to complete Gene record for TWIST1
- Go to Variation Viewer for TWIST1 variants
Summary
This gene encodes a basic helix-loop-helix (bHLH) transcription factor that plays an important role in embryonic development. The encoded protein forms both homodimers and heterodimers that bind to DNA E box sequences and regulate the transcription of genes involved in cranial suture closure during skull development. This protein may also regulate neural tube closure, limb development and brown fat metabolism. This gene is hypermethylated and overexpressed in multiple human cancers, and the encoded protein promotes tumor cell invasion and metastasis, as well as metastatic recurrence. Mutations in this gene cause Saethre-Chotzen syndrome in human patients, which is characterized by craniosynostosis, ptosis and hypertelorism. [provided by RefSeq, Jul 2020]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genetic risk factors for ischaemic stroke and its subtypes (the METASTROKE collaboration): a meta-analysis of genome-wide association studies. GeneReviews: Not available | |
| Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. GeneReviews: Not available | |
| Robinow-Sorauf syndrome | not available |
| Saethre-Chotzen syndrome | not available |
| Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants. GeneReviews: Not available | |
| Sweeney-Cox syndrome | not available |
| TWIST1-related craniosynostosis | not available |
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity No evidence available (Last evaluated 2020-12-16) ClinGen Genome Curation PageHaploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2020-12-16) ClinGen Genome Curation PagePubMed |
Genomic context
- Location:
- 7p21.1
- Sequence:
- Chromosome: 7; NC_000007.14 (19113047..19117636, complement)
- Total number of exons:
- 4
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for TWIST1 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
- TWIST1 database
- Variation ViewerRelated Variants
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