Description
Thymidine phosphorylase (TYMP) is an enzyme involved in pyrimidine metabolism; the enzymes which catalyze the reversible phosphorolysis of pyrimidine nucleosides are involved in the degradation of these compounds and in their utilization as carbon and energy sources, or in the rescue of pyrimidine bases for nucleotide synthesis. Defects in TYMP are the cause of mitochondrial DNA depletion syndrome type 1 (MTDPS1) also known as myoneurogastrointestinal encephalomyopathy (MNGIE), a multisystem disease associated with mitochondrial dysfunction.
