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ECGF1 Gene
Definition and Synonyms

Definition: The human ECGF1 gene at 22q13.33 encodes Endothelial Cell Growth Factor 1 (Platelet-Derived), which catalyses 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. This protein may have a role in maintaining the integrity of the blood vessels. It promotes angiogenesis in vivo and stimulates the in vitro growth of a variety of endothelial cells. ECGF1 has a highly restricted target cell specificity acting only on endothelial cells. It also limits glial cell proliferation as gliostatin. Defects in ECGF1 are the cause of mitochondrial neurogastrointestinal encephalomyopathy (MNGIE), an autosomal recessive human disease associated with multiple deletions of skeletal muscle mitochondrial DNA (MTDNA). (From LocusLink, Swiss-Prot and NCI)

Synonyms: ECGF1 Gene, ECGF1, hPD-ECGF

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