EC Number   |
General Information |
Reference |
|---|
   2.1.2.10 | malfunction |
enzyme mutations are responsible for 20% of nonketotic hyperglycinemia cases |
755887 |
| 2.1.2.10 | malfunction |
glycine encephalopathy (GCE) or nonketotic hyperglycinemia is an inborn error of glycine metabolism, inherited in an autosomal recessive manner due to a defect in any one of the four enzymes aminomethyltransferase (AMT), glycine decarboxylase (GLDC), glycine cleavage system protein-H (GCSH) and dehydrolipoamide dehydrogenase in the glycine cleavage system. This defect leads to glycine accumulation in body tissues, including the brain, and causes various neurological symptoms such as encephalopathy, hypotonia, apnea, intractable seizures and possible death, phenotypes, overview. Mutations in both GLDC and AMT genes are the main cause of glycine encephalopathy in Malaysian population |
736581 |
| 2.1.2.10 | malfunction |
mutations S117L and R320H cause nonketotic hyperglycinemia (NKH). Analysis of mutations in the GLYCTK gene (encoding D-glycerate kinase, EC 2.7.1.165) causing glyceric aciduria. D-glyceric aciduria causes a blockage to the glycine cleavage enzyme system (GCS). The mutation S117L, a homozygous missense mutation in AMT c.350CNT, causes NKH, but no evidence is found that D-glyceric aciduria would cause nonketotic hyperglycinemia (NKH) as a secondary phenomenon. The p.Arg320His is included as the most common AMT mutation observed in NKH patients and when homozygous, is always observed in a severe phenotype |
759778 |
| 2.1.2.10 | metabolism |
aminomethyltransferase is a component of the T-protein, which is part of a multienzyme system composed of four proteins termed P-, H-, T-, and L-protein. T-protein/aminomethyltransferase degrades the aminomethyl moiety to ammonia and 5,10-methylentetrahydrofolate in the presence of tetrahydrofolate, leaving dihydrolipoate-bearing H-protein |
719865 |
| 2.1.2.10 | more |
T-protein in complex with dihydrolipoate-bearing H-protein and 5-methyltetrahydrofolate, a complex mimicking the ternary complex in the reverse reaction, shows a highly interacting intermolecular interface limited to a small area and the protein-bound dihydrolipoyllysine arm inserted into the active site cavity of the T-protein. Arg292 of the T-protein is essential for complex assembly |
719865 |
| 2.1.2.10 | physiological function |
aminomethyltransferase reversibly catalyzes the degradation of the aminomethyl moiety of glycine attached to the lipoate cofactor of H-protein, resulting in the production of ammonia, 5,10-methylenetetrahydrofolate, and dihydrolipoate-bearing H-protein in the presence of tetrahydrofolate |
719865 |
| 2.1.2.10 | physiological function |
part of glycine cleavage system, serine metabolism |
706478 |
| 2.1.2.10 | physiological function |
the enzyme is essential for photorespiration and one-carbon metabolism |
758091 |
