TDP1 Chromosome 14
Tyrosyl-DNA phosphodiesterase 1
Upload your DNA to see your personal genotypes for variants in TDP1.
What This Gene Does
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 (3)
Spinocerebellar ataxia
autosomal recessive
with axonal neuropathy 1
Key Variants
RS200900192
Conflicting classifications of pathogenicity
Health Risk
RS75808917
Conflicting classifications of pathogenicity
Health Risk
RS769278668
Conflicting classifications of pathogenicity
Health Risk
RS779666160
Conflicting classifications of pathogenicity
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1
Health Risk
RS1376503364
Likely pathogenic
Health Risk
RS1566929134
Likely pathogenic
Health Risk
RS1892596331
Likely pathogenic
Health Risk
RS370121773
Likely pathogenic
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1
Health Risk
RS119467003
Pathogenic
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1
Health Risk
All Variants (9)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS200900192 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS75808917 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS769278668 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS779666160 | Health Risk | Conflicting classifications of pathogenicity | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 |
| RS1376503364 | Health Risk | Likely pathogenic | — |
| RS1566929134 | Health Risk | Likely pathogenic | — |
| RS1892596331 | Health Risk | Likely pathogenic | — |
| RS370121773 | Health Risk | Likely pathogenic | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 |
| RS119467003 | Health Risk | Pathogenic | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 |