TDP2 is a DNA repair gene encoding the protein tyrosyl DNA phosphodiesterase 2 (TDP2). TDP2 protein promotes the repair of DNA double-strand breaks created by the erroneous/abortive activity of topoisomerase II (TOP2). Mutations in TDP2 result in spinocerebellar ataxia autosomal type 23 (SCAR23; OMIM 616949), associated primarily with developmental delay, intellectual disability, cerebellar ataxia, seizures, and dysmorphic facial features.
TDP2