TDP1 tyrosyl-DNA phosphodiesterase 1
Gene ID: 55775, updated on 2-Nov-2024Gene type: protein coding
- See all available tests in GTR for this gene
- Go to complete Gene record for TDP1
- Go to Variation Viewer for TDP1 variants
Summary
The protein encoded by this gene is involved in repairing stalled topoisomerase I-DNA complexes by catalyzing the hydrolysis of the phosphodiester bond between the tyrosine residue of topoisomerase I and the 3-prime phosphate of DNA. This protein may also remove glycolate from single-stranded DNA containing 3-prime phosphoglycolate, suggesting a role in repair of free-radical mediated DNA double-strand breaks. This gene is a member of the phospholipase D family and contains two PLD phosphodiesterase domains. Mutations in this gene are associated with the disease spinocerebellar ataxia with axonal neuropathy (SCAN1). [provided by RefSeq, Aug 2016]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 MedGen: C4759870OMIM: 607250GeneReviews: Spinocerebellar Ataxia with Axonal Neuropathy, Autosomal Recessive | See labs |
Genomic context
- Location:
- 14q32.11
- Sequence:
- Chromosome: 14; NC_000014.9 (89954968..90044764)
- Total number of exons:
- 20
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for TDP1 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
- TDP1 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.