Application | Comment | Organism |
---|---|---|
medicine | in 14 patients from 13 families with clinical and biochemical features suggestive of glycine encephalopathy, mutations of the glycine cleavage system are identified. Seven patients (50%) have biallelic mutations in GldC gene, six patients (43%) have biallelic mutations in Amt gene and one patient (7%) has mutation identified in only one allele in GldC gene. Majority of the mutations in GldC and AMT are missense mutations and family-specific. No mutation is found in GcsH gene | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
additional information | identification of mutations c.664C4T, c.688G4C, c.794G4A, c.826G4C and one heterozygous deletion causing frameshift mutation (c.982delG) in the AMT gene, mutations c.673T4C, c.883G4T, c.1114C4T, c.1525C4G, c.1607G4A, c.1789G4A and c.2280C4G in the GldC gene of patients with clinical and biochemical features suggestive of glycine encephalopathy | Homo sapiens |
Localization | Comment | Organism | GeneOntology No. | Textmining |
---|---|---|---|---|
mitochondrion | - |
Homo sapiens | 5739 | - |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | P23378 and P23434 and P48728 and P09622 | P23378 i.e. glycine dehydrogenase component P-protein, cf. EC 1.4.4.2, P23434 i.e. component H-protein, P48728 i.e. aminomethyltransferase component T-protein, cf. EC 2.1.2.10, P09622 i.e. dihydrolipoyl dehydrogenase component L-protein, cf. EC 1.8.1.4 | - |
Synonyms | Comment | Organism |
---|---|---|
DLD | aminomethyltransferase | Homo sapiens |
GCSH | glycine cleavage system protein-H | Homo sapiens |
GLDC | glycine decarboxylase | Homo sapiens |