rs1408349393
This variant is located in the TDP1 gene.
▶ClinVar annotation
not provided; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1
View on ClinVar →About TDP1
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]
View all TDP1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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