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Literature summary for 1.4.1.27 extracted from

  • Azize, N.A.; Ngah, W.Z.; Othman, Z.; Md Desa, N.; Chin, C.B.; Md Yunus, Z.; Mohan, A.; Hean, T.S.; Syed Zakaria, S.Z.; Lock-Hock, N.
    Mutation analysis of glycine decarboxylase, aminomethyltransferase and glycine cleavage system protein-H genes in 13 unrelated families with glycine encephalopathy (2014), J. Hum. Genet., 59, 593-597 .
    View publication on PubMed

Application

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

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

Localization Comment Organism GeneOntology No. Textmining
mitochondrion
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Homo sapiens 5739
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Organism

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
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Synonyms

Synonyms Comment Organism
DLD aminomethyltransferase Homo sapiens
GCSH glycine cleavage system protein-H Homo sapiens
GLDC glycine decarboxylase Homo sapiens