A variety of mutations in the TYMP gene have been discovered that lead to the onset of<unk> . The TYMP gene is a nuclear gene, however, mutations in the TYMP gene affect<unk>  DNA and function. Mutations in this gene result in a loss of thymidine phosphorylase activity. Thymidine phosphorylase is the enzymatic product of the TYMP gene and is responsible for breaking down thymidine nucleosides into thymine and 2-deoxyribose 1-phosphate. Without normal thymidine phosphorylase activity, thymidine nucleosides begin to build up in cells. High nucleoside levels are toxic to<unk>  DNA and cause mutations that lead to dysfunction of the respiratory chain, and thus, inadequate energy production in the cells. These<unk>  effects are responsible for the symptomatology associated with the disease.
Mitochondrial neurogastrointestinal encephalopathy syndrome
Okamoto syndrome
Yushō disease
Morquio syndrome
Sandhoff disease
Sanjad-Sakati syndrome
Stratton Parker syndrome
Wilson's temperature syndrome