thymidine phosphorylase
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The TYMP gene (previously known as ECGF1) provides instructions for making an enzyme called thymidine phosphorylase. Thymidine is a molecule known as a nucleoside. After a chemical modification, thymidine is used as a building block of DNA. Thymidine phosphorylase converts thymidine into two smaller molecules, 2-deoxyribose 1-phosphate and thymine. By breaking down thymidine, this chemical reaction helps regulate the level of nucleosides in cells.
Normal function
The TYMP gene (previously known as ECGF1) provides instructions for making an enzyme called thymidine phosphorylase. Thymidine is a molecule known as a nucleoside. After a chemical modification, thymidine is used as a building block of DNA. Thymidine phosphorylase converts thymidine into two smaller molecules, 2-deoxyribose 1-phosphate and thymine. By breaking down thymidine, this chemical reaction helps regulate the level of nucleosides in cells.
Thymidine phosphorylase plays an important role in maintaining the appropriate amount of thymidine in cell structures called mitochondria. Mitochondria convert the energy from food into a form that cells can use. Although most DNA is packaged in chromosomes within the nucleus, mitochondria also have a small amount of their own DNA, called mitochondrial DNA or mtDNA. Mitochondria use nucleosides, including thymidine, to build new molecules of mtDNA.
Conditions referring to this gene or chromosome
Altri nomi
ECGF1
endothelial cell growth factor 1 (platelet-derived)
gliostatin
hPD-ECGF
MNGIE
PD-ECGF
PDECGF
TdRPase
TP
TYPH_HUMAN
Ulteriori letture e riferimenti
- thymidine phosphorylase; MedlinePlus, National Library of Medicine.
- Hirano M, Marti R, Spinazzola A, Nishino I, Nishigaki Y. Thymidine phosphorylase deficiency causes MNGIE: an autosomal recessive mitochondrial disorder. Nucleosides Nucleotides Nucleic Acids. 2004 Oct;23(8-9):1217-25. doi: 10.1081/NCN-200027485.
- Hirano M, Nishigaki Y, Marti R. Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a disease of two genomes. Neurologist. 2004 Jan;10(1):8-17. doi: 10.1097/01.nrl.0000106919.06469.04.
- Lara MC, Valentino ML, Torres-Torronteras J, Hirano M, Marti R. Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): biochemical features and therapeutic approaches. Biosci Rep. 2007 Jun;27(1-3):151-63. doi: 10.1007/s10540-007-9043-2.
- Marti R, Nishigaki Y, Vila MR, Hirano M. Alteration of nucleotide metabolism: a new mechanism for mitochondrial disorders. Clin Chem Lab Med. 2003 Jul;41(7):845-51. doi: 10.1515/CCLM.2003.128.
- Marti R, Spinazzola A, Nishino I, Andreu AL, Naini A, Tadesse S, Oliver JA, Hirano M. Mitochondrial neurogastrointestinal encephalomyopathy and thymidine metabolism: results and hypotheses. Mitochondrion. 2002 Nov;2(1-2):143-7. doi: 10.1016/s1567-7249(02)00036-3.
- Nishino I, Spinazzola A, Hirano M. MNGIE: from nuclear DNA to mitochondrial DNA. Neuromuscul Disord. 2001 Jan;11(1):7-10. doi: 10.1016/s0960-8966(00)00159-0.
- Nishino I, Spinazzola A, Hirano M. Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder. Science. 1999 Jan 29;283(5402):689-92. doi: 10.1126/science.283.5402.689.
- Nishino I, Spinazzola A, Papadimitriou A, Hammans S, Steiner I, Hahn CD, Connolly AM, Verloes A, Guimaraes J, Maillard I, Hamano H, Donati MA, Semrad CE, Russell JA, Andreu AL, Hadjigeorgiou GM, Vu TH, Tadesse S, Nygaard TG, Nonaka I, Hirano I, Bonilla E, Rowland LP, DiMauro S, Hirano M. Mitochondrial neurogastrointestinal encephalomyopathy: an autosomal recessive disorder due to thymidine phosphorylase mutations. Ann Neurol. 2000 Jun;47(6):792-800.
- Valentino ML, Marti R, Tadesse S, Lopez LC, Manes JL, Lyzak J, Hahn A, Carelli V, Hirano M. Thymidine and deoxyuridine accumulate in tissues of patients with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). FEBS Lett. 2007 Jul 24;581(18):3410-4. doi: 10.1016/j.febslet.2007.06.042. Epub 2007 Jun 27.
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