GLDC

Glycine dehydrogenase (decarboxylating), also known as GLDC, is a human gene.cite web | title = Entrez Gene: GLDC glycine dehydrogenase (decarboxylating)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2731| accessdate = ]

PBB_Summary
section_title =
summary_text = The enzyme system for cleavage of glycine (glycine cleavage system; GCS; EC 2.1.2.10), which is confined to the mitochondria, is composed of 4 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). Glycine encephalopathy (GCE; MIM 605899) may be due to a defect in any one of these enzymes; see MIM 238310, MIM 238330, and MIM 238331. [supplied by OMIM] cite web | title = Entrez Gene: GLDC glycine dehydrogenase (decarboxylating)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2731| accessdate = ]

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Applegarth DA, Toone JR |title=Nonketotic hyperglycinemia (glycine encephalopathy): laboratory diagnosis. |journal=Mol. Genet. Metab. |volume=74 |issue= 1-2 |pages= 139–46 |year= 2001 |pmid= 11592811 |doi= 10.1006/mgme.2001.3224
*cite journal | author=Kure S, Takayanagi M, Narisawa K, "et al." |title=Identification of a common mutation in Finnish patients with nonketotic hyperglycinemia. |journal=J. Clin. Invest. |volume=90 |issue= 1 |pages= 160–4 |year= 1992 |pmid= 1634607 |doi=
*cite journal | author=Kume A, Koyata H, Sakakibara T, "et al." |title=The glycine cleavage system. Molecular cloning of the chicken and human glycine decarboxylase cDNAs and some characteristics involved in the deduced protein structures. |journal=J. Biol. Chem. |volume=266 |issue= 5 |pages= 3323–9 |year= 1991 |pmid= 1993704 |doi=
*cite journal | author=Kure S, Narisawa K, Tada K |title=Structural and expression analyses of normal and mutant mRNA encoding glycine decarboxylase: three-base deletion in mRNA causes nonketotic hyperglycinemia. |journal=Biochem. Biophys. Res. Commun. |volume=174 |issue= 3 |pages= 1176–82 |year= 1991 |pmid= 1996985 |doi=
*cite journal | author=Sakakibara T, Koyata H, Ishiguro Y, "et al." |title=One of the two genomic copies of the glycine decarboxylase cDNA has been deleted at a 5' region in a patient with nonketotic hyperglycinemia. |journal=Biochem. Biophys. Res. Commun. |volume=173 |issue= 3 |pages= 801–6 |year= 1991 |pmid= 2268343 |doi=
*cite journal | author=Burton BK, Pettenati MJ, Block SM, "et al." |title=Nonketotic hyperglycinemia in a patient with the 9p- syndrome. |journal=Am. J. Med. Genet. |volume=32 |issue= 4 |pages= 504–5 |year= 1989 |pmid= 2773994 |doi= 10.1002/ajmg.1320320416
*cite journal | author=Hayasaka K, Kochi H, Hiraga K, Kikuchi G |title=Purification and properties of glycine decarboxylase, a component of the glycine cleavage system, from rat liver mitochondria and immunochemical comparison of this enzyme from various sources. |journal=J. Biochem. |volume=88 |issue= 4 |pages= 1193–9 |year= 1981 |pmid= 6778858 |doi=
*cite journal | author=Hiraga K, Kochi H, Hayasaka K, "et al." |title=Defective glycine cleavage system in nonketotic hyperglycinemia. Occurrence of a less active glycine decarboxylase and an abnormal aminomethyl carrier protein. |journal=J. Clin. Invest. |volume=68 |issue= 2 |pages= 525–34 |year= 1981 |pmid= 6790577 |doi=
*cite journal | author=Takayanagi M, Kure S, Sakata Y, "et al." |title=Human glycine decarboxylase gene (GLDC) and its highly conserved processed pseudogene (psiGLDC): their structure and expression, and the identification of a large deletion in a family with nonketotic hyperglycinemia. |journal=Hum. Genet. |volume=106 |issue= 3 |pages= 298–305 |year= 2000 |pmid= 10798358 |doi=
*cite journal | author=Toone JR, Applegarth DA, Coulter-Mackie MB, James ER |title=Biochemical and molecular investigations of patients with nonketotic hyperglycinemia. |journal=Mol. Genet. Metab. |volume=70 |issue= 2 |pages= 116–21 |year= 2000 |pmid= 10873393 |doi= 10.1006/mgme.2000.3000
*cite journal | author=Toone JR, Applegarth DA, Coulter-Mackie MB, James ER |title=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). |journal=Mol. Genet. Metab. |volume=72 |issue= 4 |pages= 322–5 |year= 2001 |pmid= 11286506 |doi= 10.1006/mgme.2001.3158
*cite journal | author=Kure S, Kojima K, Ichinohe A, "et al." |title=Heterozygous GLDC and GCSH gene mutations in transient neonatal hyperglycinemia. |journal=Ann. Neurol. |volume=52 |issue= 5 |pages= 643–6 |year= 2002 |pmid= 12402263 |doi= 10.1002/ana.10367
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899
*cite journal | author=Toone JR, Applegarth DA, Laliberte G |title=Gene Symbol: GLDC. Disease: NKH glycine encephalopathy. |journal=Hum. Genet. |volume=113 |issue= 5 |pages= 465 |year= 2003 |pmid= 14552331 |doi=
*cite journal | author=Dinopoulos A, Kure S, Chuck G, "et al." |title=Glycine decarboxylase mutations: a distinctive phenotype of nonketotic hyperglycinemia in adults. |journal=Neurology |volume=64 |issue= 7 |pages= 1255–7 |year= 2006 |pmid= 15824356 |doi= 10.1212/01.WNL.0000156800.23776.40
*cite journal | author=Flusser H, Korman SH, Sato K, "et al." |title=Mild glycine encephalopathy (NKH) in a large kindred due to a silent exonic GLDC splice mutation. |journal=Neurology |volume=64 |issue= 8 |pages= 1426–30 |year= 2006 |pmid= 15851735 |doi= 10.1212/01.WNL.0000158475.12907.D6
*cite journal | author=Boneh A, Korman SH, Sato K, "et al." |title=A single nucleotide substitution that abolishes the initiator methionine codon of the GLDC gene is prevalent among patients with glycine encephalopathy in Jerusalem. |journal=J. Hum. Genet. |volume=50 |issue= 5 |pages= 230–4 |year= 2005 |pmid= 15864413 |doi= 10.1007/s10038-005-0243-y
*cite journal | author=Kimura K, Wakamatsu A, Suzuki Y, "et al." |title=Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. |journal=Genome Res. |volume=16 |issue= 1 |pages= 55–65 |year= 2006 |pmid= 16344560 |doi= 10.1101/gr.4039406
*cite journal | author=Korman SH, Wexler ID, Gutman A, "et al." |title=Treatment from birth of nonketotic hyperglycinemia due to a novel GLDC mutation. |journal=Ann. Neurol. |volume=59 |issue= 2 |pages= 411–5 |year= 2006 |pmid= 16404748 |doi= 10.1002/ana.20759

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