Full name: tyrosyl-DNA phosphodiesterase 1

Gene type: protein coding

RefSeq status: REVIEWED

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]

Expression: Broad expression in testis (RPKM 7.3), lymph node (RPKM 4.5) and 24 other tissues

Gene size: 89797bp

Exon count: 20