Gene Symbol | TYMP |
Entrez Gene ID | 1890 |
Full Name | thymidine phosphorylase |
Synonyms | ECGF,ECGF1,MEDPS1,MNGIE,MTDPS1,PDECGF,TP,hPD-ECGF |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Mitochondrial DNA depletion syndrome 1 (MNGIE type), 603041 (3) |