TOR1A torsin family 1 member A
Gene ID: 1861, updated on 4-Jan-2025Gene type: protein coding
Also known as: DQ2; AMC5; DYT1
- See all available tests in GTR for this gene
- Go to complete Gene record for TOR1A
- Go to Variation Viewer for TOR1A variants
Summary
The protein encoded by this gene is a member of the AAA family of adenosine triphosphatases (ATPases), is related to the Clp protease/heat shock family and is expressed prominently in the substantia nigra pars compacta. Mutations in this gene result in the autosomal dominant disorder, torsion dystonia 1. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Arthrogryposis multiplex congenita 5 | See labs |
| Early-onset generalized limb-onset dystonia MedGen: C1851945OMIM: 128100GeneReviews: Hereditary Dystonia Overview, DYT1 Early-Onset Isolated Dystonia | See labs |
Genomic context
- Location:
- 9q34.11
- Sequence:
- Chromosome: 9; NC_000009.12 (129812942..129824136, complement)
- Total number of exons:
- 5
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for TOR1A 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
- TOR1A database
- Variation ViewerRelated Variants
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.