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.
Other Names
ECGF1; endothelial cell growth factor 1 (platelet-derived); gliostatin; hPD-ECGF; MNGIE; PD-ECGF; PDECGF; TdRPase; TP; TYPH_HUMAN
Related Genetics Topics
Identifiers
- NCBI Gene: 1890
- OMIM: 131222
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
