Gene: GLDC

Alternate names for this Gene: GCE|GCSP|HYGN1

Gene Summary: Degradation of glycine is brought about by the glycine cleavage system, which is composed of four mitochondrial protein components: P protein (a pyridoxal phosphate-dependent glycine decarboxylase), H protein (a lipoic acid-containing protein), T protein (a tetrahydrofolate-requiring enzyme), and L protein (a lipoamide dehydrogenase). The protein encoded by this gene is the P protein, which binds to glycine and enables the methylamine group from glycine to be transferred to the T protein. Defects in this gene are a cause of nonketotic hyperglycinemia (NKH).

Gene is located in Chromosome: 9

Location in Chromosome : 9p24.1

Description of this Gene: glycine decarboxylase

Type of Gene: protein-coding

rs75636497 in GLDC gene and Asthma PMID 31619474 2019 Shared genetics of asthma and mental health disorders: a large-scale genome-wide cross-trait analysis.

rs2013966 in GLDC gene and Body Height PMID 31562340 2019 Characterizing rare and low-frequency height-associated variants in the Japanese population.

rs1061407 in GLDC gene and Eosinophil count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs121964976 in GLDC gene and Epilepsy, Generalized PMID 10873393 2000 Biochemical and molecular investigations of patients with nonketotic hyperglycinemia.

rs143119940 in GLDC gene and Glycine measurement PMID 30837465 2019 Assessing the causal association of glycine with risk of cardio-metabolic diseases.

rs1163356968 in GLDC gene and Nonketotic Hyperglycinemia PMID 27362913 2017 The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT.

PMID 22633639 2012 Two novel missense mutations observed in nonketotic hyperglycinemia.

PMID 26179960 2015 Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemia.

PMID 28737873 2017 Two novel mutations in the glycine decarboxylase gene in a boy with classic nonketotic hyperglycinemia: case report.

PMID 1996985 1991 Structural and expression analyses of normal and mutant mRNA encoding glycine decarboxylase: three-base deletion in mRNA causes nonketotic hyperglycinemia.

PMID 28244183 2017 Nonketotic hyperglycinemia: Functional assessment of missense variants in GLDC to understand phenotypes of the disease.

PMID 11592811 2001 Nonketotic hyperglycinemia (glycine encephalopathy): laboratory diagnosis.

PMID 11286506 2001 Recurrent mutations in P- and T-proteins of the glycine cleavage complex and a novel T-protein mutation (N145I): a strategy for the molecular investigation of patients with nonketotic hyperglycinemia (NKH).

PMID 1634607 1992 Identification of a common mutation in Finnish patients with nonketotic hyperglycinemia.

PMID 15791207 2005 Structure of P-protein of the glycine cleavage system: implications for nonketotic hyperglycinemia.

PMID 17361008 2007 Genomic deletion within GLDC is a major cause of non-ketotic hyperglycinaemia.

PMID 12126939 2002 Novel mutations in the P-protein (glycine decarboxylase) gene in patients with glycine encephalopathy (non-ketotic hyperglycinemia).

PMID 15670722 2005 Detection of mutations in the glycine decarboxylase gene in patients with nonketotic hyperglycinaemia.

PMID 10873393 2000 Biochemical and molecular investigations of patients with nonketotic hyperglycinemia.

PMID 15824356 2005 Glycine decarboxylase mutations: a distinctive phenotype of nonketotic hyperglycinemia in adults.

PMID 16450403 2006 Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia.

PMID 15272469 2004 Glycine encephalopathy (nonketotic hyperglycinaemia) : review and update.

PMID 26749113 2016 Neurodevelopmental Outcome and Treatment Efficacy of Benzoate and Dextromethorphan in Siblings with Attenuated Nonketotic Hyperglycinemia.

PMID 16601880 2006 Genetic heterogeneity of the GLDC gene in 28 unrelated patients with glycine encephalopathy.

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 20691948 2010 Nonketotic hyperglycinemia: proposal of a diagnostic and treatment strategy.

PMID 24407464 2014 Diagnosis of glycine encephalopathy in a pediatric patient by detection of a GLDC mutation during initial next generation DNA sequencing.

PMID 20933183 2010 A novel missense mutation in a neonate with nonketotic hyperglycinemia.

PMID 22171071 2012 Mutations in genes encoding the glycine cleavage system predispose to neural tube defects in mice and humans.

PMID 15192636 2004 Mild variant of nonketotic hyperglycinemia with typical neonatal presentations: mutational and in vitro expression analyses in two patients.

PMID 15851735 2005 Homozygosity for c.2607C>A was also identified in an unrelated but haplotypically identical patient with an unusually favorable outcome despite severe neonatal-onset GE.

rs121964976 in GLDC gene and Obesity PMID 10873393 2000 Biochemical and molecular investigations of patients with nonketotic hyperglycinemia.

rs55933544 in GLDC gene and Osteosarcoma PMID 29210060 2018 Genome-wide association study identifies the GLDC/IL33 locus associated with survival of osteosarcoma patients.