Summary
Performance
Immunogen
Application
Background
This gene encodes an angiogenic factor which promotes angiogenesis in vivo and stimulates the in vitro growth of a variety of endothelial cells. It has a highly restricted target cell specificity acting only on endothelial cells. Mutations in this gene have been associated with mitochondrial neurogastrointestinal encephalomyopathy. Multiple alternatively spliced transcript variants have been identified. [provided by RefSeq, Apr 2012],catalytic activity:Thymidine + phosphate = thymine + 2-deoxy-alpha-D-ribose 1-phosphate.,disease:Defects in TYMP are the cause of mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) [MIM:603041]; also known as myoneurogastrointestinal encephalomyopathy. MNGIE is an autosomal recessive disease associated with multiple deletions of skeletal muscle mitochondrial DNA (MtDNA). It is clinically characterized by onset between the second and fifth decades of life, ptosis, progressive external ophthalmoplegia, gastrointestinal dysmotility (often pseudoobstruction), diffuse leukoencephalopathy, thin body habitus, peripheral neuropathy, and myopathy.,function:Catalyzes the reversible phosphorolysis of thymidine. The produced molecules are then utilized as carbon and energy sources or in the rescue of pyrimidine bases for nucleotide synthesis.,function:May have a role in maintaining the integrity of the blood vessels. Has growth promoting activity on endothelial cells, angiogenic activity in vivo and chemotactic activity on endothelial cells in vitro.,pathway:Pyrimidine metabolism; dTMP biosynthesis via salvage pathway; dTMP from thymine: step 1/2.,similarity:Belongs to the thymidine/pyrimidine-nucleoside phosphorylase family.,subunit:Homodimer.,
Research Area
Pyrimidine metabolism;Drug metabolism;Bladder cancer;
