PD-ECGF Rabbit Polyclonal Antibody

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.