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Symbol TYMP contributors: npt - updated : 16-10-2010
HGNC name thymidine phosphorylase
HGNC id 3148
  • mice deficient in the Tymp gene have no thymidine phosphorylase activity (TP) in liver. Tymp-uridine phosphorylase double-knockout mice have no TP activities and higher thymidine level in plasma and display brain lesionsand axonal edema
  • thymidine phosphorylase (TP) and uridine phosphorylase (UP) double knockout mice have evere TP deficiency, increased thymidine and deoxyuridine in tissues, elevated mitochondrial deoxythymidine triphosphate, partial depletion of mtDNA in brain, deficiencies of respiratory chain complexes and encephalopathy