Recombinant Human Glycine dehydrogenase [decarboxylating], mitochondrial (GLDC), partial

1. A novel compound heterozygous variant was identified in the GLDC gene in a Chinese family with non-ketotic hyperglycinemia PMID: 29304759
2. it was concluded that elevated serum GLDC may increase lung cancer risk, and that smoking, GLDC, the miR29 family and DNMT signaling pathways may serve an important role in early malignant transformation during the development of lung cancer. PMID: 29956770
3. a comprehensive functional and structural analysis of 19 GLDC missense variants identified in a cohort of 26 nonketotic hyperglycinemia patients was performed PMID: 28244183
4. The position and frequency of the breakpoint for CNVs correlated with intron size and presence of Alu elements. Missense mutations, most often recurring, were the most common type of disease-causing mutation in AMT PMID: 27362913
5. We show that the combination of GLDC and HIF-1alpha expression is an independent prognostic factor in early-stage lung non-small cell cancer PMID: 28062918
6. study reports a novel mutation, c.2296G>T (p.Gly766Cys), in exon 19 of the glycine decarboxylase (GLDC) gene in a consanguineous Indian couple with a history of 4 neonatal deaths PMID: 23349517
7. Identification of a splice acceptor site mutation and five different non-synonymous variants in GLDC were found in patients with neural tube defects. PMID: 22171071
8. Study shows that glycine metabolism and the metabolic enzyme glycine decarboxylase (GLDC) drive tumor-initiating cells and tumorigenesis in non-small cell lung cancer. PMID: 22225612
9. Heterozygous GLDC gene mutation in transient neonatal hyperglycinemia. PMID: 12402263
10. Missense and nonsense mutations found in glycine encephalopathy PMID: 14552331
11. Three adults with mild hyperglycinemia, infantile hypotonia, mental retardation, behavioral hyperirritability, and aggressive outbursts were screened for glycine decarboxylase mutations; two novel missense mutations were found. PMID: 15824356
12. The mutation in this nonketotic hyperglycinemia kindred led to missplicing and reduced GLDC (glycine decarboxylase) expression. PMID: 15851735
13. Single nucleotide substitution that abolishes the initiator methionine codon of the GLDC gene is associated with glycine encephalopathy PMID: 15864413
14. the nonketotic hyperglycinemia is due to a novel GLDC mutation. PMID: 16404748
15. forty different gene alterations in the GLDC gene were identified in patients with glycine encephalopathy PMID: 16601880
16. A screening system for GLDC deletions by multiplex ligation-dependent probe amplification identified 14 deletions of different length & Alu-mediated recombination in non-ketotic hyperglycinaemia patients. PMID: 17361008
17. a histidine-to-aspartic acid change at amino acid position 371 (p. His371Asp mutation) in the glycine decarboxylase in a non-ketotic hyperglycemia patient. PMID: 18581728

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HGNC: 4313

OMIM: 238300

KEGG: hsa:2731

STRING: 9606.ENSP00000370737

UniGene: Hs.584238