Selected-GenAtlas references	SOURCE	GeneCards	NCBI Gene	Swiss-Prot	Orphanet	Ensembl
	HGNC	UniGene	Nucleotide	OMIM		UCSC

Home Page

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

ASSOCIATED DISORDERS

corresponding disease(s)

MNGIE

Susceptibility

to thymidine phosphorylase enhances the invasion of tumor cells through the induction of invasion-related genes

Variant & Polymorphism

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed mitochondrial disease     administration of a single dose of erythrocyte-encapsulated thymidine phosphorylase to a severely affected individual resulted in partial reductions of thymidine and deoxyuridine in blood and urine

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