TYMP is a gene that encodes for the enzyme thymidine phosphorylase.[5][6] The TYMP gene is also known as ECGF1 (endothelial cell growth factor 1, platelet-derived) and MNGIE due to its role in MNGIE syndrome. [7]
Structure
The TYMP gene is located on chromosome 22 in humans and contains 10 exons spanning more than 4.3 kb.
Thymidine phosphorylase is angiogenic growth factor which promotes angiogenesis in vivo and stimulates the in vitro growth of a variety of endothelial cells. Thymidine phosphorylase has a highly restricted target cell specificity acting only on endothelial cells, hence its alternative name of ECGF1. Because it limits glial cell proliferation, thymidine phosphorylase is also known as gliostatin. Thymidine phosphorylase activity in leukocytes from mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) patients was less than 5 percent of controls, indicating that loss-of-function mutations in TYMP cause MNGIE.[8]
Interactive pathway map
Click on genes, proteins and metabolites below to link to respective articles.[§ 1]
Ishikawa F, Miyazono K, Hellman U, et al. (1989). "Identification of angiogenic activity and the cloning and expression of platelet-derived endothelial cell growth factor". Nature. 338 (6216): 557–62. Bibcode:1989Natur.338..557I. doi:10.1038/338557a0. PMID2467210. S2CID4337444.
Bardosi A, Creutzfeldt W, DiMauro S, et al. (1987). "Myo-, neuro-, gastrointestinal encephalopathy (MNGIE syndrome) due to partial deficiency of cytochrome-c-oxidase. A new mitochondrial multisystem disorder". Acta Neuropathol. 74 (3): 248–58. doi:10.1007/BF00688189. PMID2823522. S2CID20379299.
Usuki K, Gonez LJ, Wernstedt C, et al. (1994). "Structural properties of 3.0 kb and 3.2 kb transcripts encoding platelet-derived endothelial cell growth factor/thymidine phosphorylase in A431 cells". Biochim. Biophys. Acta. 1222 (3): 411–4. doi:10.1016/0167-4889(94)90049-3. PMID8038210.
Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID8125298.
Hirano M, Silvestri G, Blake DM, et al. (1994). "Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical, biochemical, and genetic features of an autosomal recessive mitochondrial disorder". Neurology. 44 (4): 721–7. doi:10.1212/wnl.44.4.721. PMID8164833. S2CID31980361.
Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID9373149.
Asgari MM, Haggerty JG, McNiff JM, et al. (1999). "Expression and localization of thymidine phosphorylase/platelet-derived endothelial cell growth factor in skin and cutaneous tumors". J. Cutan. Pathol. 26 (6): 287–94. doi:10.1111/j.1600-0560.1999.tb01846.x. PMID10472757. S2CID32158847.
Loftus BJ, Kim UJ, Sneddon VP, et al. (1999). "Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q". Genomics. 60 (3): 295–308. doi:10.1006/geno.1999.5927. PMID10493829.
Komatsu T, Yamazaki H, Shimada N, et al. (2001). "Involvement of microsomal cytochrome P450 and cytosolic thymidine phosphorylase in 5-fluorouracil formation from tegafur in human liver". Clin. Cancer Res. 7 (3): 675–81. PMID11297264.
Kojima H, Shijubo N, Abe S (2002). "Thymidine phosphorylase and vascular endothelial growth factor in patients with Stage I lung adenocarcinoma". Cancer. 94 (4): 1083–93. doi:10.1002/cncr.10352. PMID11920479. S2CID35877612.