EC Number   |
Protein Variants |
Reference |
|---|
    2.1.1.20 | DELTA171-295 |
to map the interactive domain of GNMT plasmids containing different domains GNMT are constructed: The C-terminal 171-295 amino acid fragment of GNMT is identified as interactive domain |
720481 |
| 2.1.1.20 | H176N |
mutant enzyme possesses 75% activity of the wild-type enzyme |
657755 |
| 2.1.1.20 | H176N |
naturally occurring mutation, 25% less activity and highly reduced stability compared with the native enzyme, completely inactive at 2 M urea compared with 60% remaining activity of the wild type enzyme |
689908 |
| 2.1.1.20 | H176N |
the mutant activity decreases 25% regarding Vmax |
706903 |
| 2.1.1.20 | L149P |
the mutant is inactivated by 90% |
706903 |
| 2.1.1.20 | L49P |
mutant enzyme possesses 10% activity of the wild-type enzyme |
657755 |
| 2.1.1.20 | more |
construction of -/- and +/- knockout mutants, Gnmt -/- mice show hepatomegaly, hypermethioninemia, and significantly higher levels of serum alanine aminotransferase and hepatic S-adenosylmethionine, down regulation of S-adenosylhomocysteine hydrolase and formiminotransferase cyclodeaminase, abnormally high glycogen accumulation in liver, hypoglycemia, increased serum cholesterol, and significantly lower numbers of white blood cells, neutrophils, and monocytes, some genes of gluconeogenesis enzyme significantly down regulated in Gnmt -/- mice |
687011 |
| 2.1.1.20 | more |
construction of GNMT knockout mice, knockout mice have elevated serum aminotransferase, methionine, and S-adenosyl-L-methionine levels and develop liver steatosis, fibrosis, and hepatocellular carcinoma, loss of GNMT induces aberrant methylation of DNA and histones, resulting in epigenetic modulation of critical carcinogenic pathways, several Ras and JAK/STAT inhibitors are reduced in liver tumors of enzyme knockout mice |
687008 |
| 2.1.1.20 | more |
patients with mutations Leu49Pro and His176Asn suffer from mild liver disease |
485227 |
| 2.1.1.20 | N140S |
mutant enzyme possesses less than 5% activity of the wild-type enzyme |
657755 |
