TDP1

Chr 14AR

tyrosyl-DNA phosphodiesterase 1

NCBI Gene: 55775 ENSG00000042088 UniProt: Q9NUW8 OMIM: 607198

TDP1 encodes a DNA repair enzyme that removes covalent adducts from DNA by hydrolyzing 3'-phosphodiester bonds, including repair of stalled topoisomerase I-DNA complexes and radiation-induced DNA breaks. Biallelic mutations cause spinocerebellar ataxia with axonal neuropathy 1 (SCAN1), an autosomal recessive disorder affecting both the cerebellum and peripheral nerves. The gene is not highly constrained against loss-of-function variants (LOEUF 1.107), consistent with its recessive inheritance pattern.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt

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]

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