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FLASH GENE

Symbol

TYMP

contributors: npt - updated : 16-10-2010

HGNC name	thymidine phosphorylase
HGNC id	3148

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ANIMAL & CELL MODELS

	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