GLDC
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| Glycine dehydrogenase (decarboxylating) | |||||||||||
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| Identifiers | |||||||||||
| Symbols | GLDC ; GCE; NKH; GCSP; HYGN1; MGC138198; MGC138200 | ||||||||||
| External IDs | Template:OMIM5 Template:MGI HomoloGene: 141 | ||||||||||
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| Species | Human | Mouse | |||||||||
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| RefSeq (protein) | n/a | n/a | |||||||||
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Glycine dehydrogenase (decarboxylating), also known as GLDC, is a human gene.[1]
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][1]
References
Further reading
- Applegarth DA, Toone JR (2001). "Nonketotic hyperglycinemia (glycine encephalopathy): laboratory diagnosis". Mol. Genet. Metab. 74 (1–2): 139–46. doi:10.1006/mgme.2001.3224. PMID 11592811.
- Kure S, Takayanagi M, Narisawa K; et al. (1992). "Identification of a common mutation in Finnish patients with nonketotic hyperglycinemia". J. Clin. Invest. 90 (1): 160–4. PMID 1634607.
- Kume A, Koyata H, Sakakibara T; et al. (1991). "The glycine cleavage system. Molecular cloning of the chicken and human glycine decarboxylase cDNAs and some characteristics involved in the deduced protein structures". J. Biol. Chem. 266 (5): 3323–9. PMID 1993704.
- Kure S, Narisawa K, Tada K (1991). "Structural and expression analyses of normal and mutant mRNA encoding glycine decarboxylase: three-base deletion in mRNA causes nonketotic hyperglycinemia". Biochem. Biophys. Res. Commun. 174 (3): 1176–82. PMID 1996985.
- Sakakibara T, Koyata H, Ishiguro Y; et al. (1991). "One of the two genomic copies of the glycine decarboxylase cDNA has been deleted at a 5' region in a patient with nonketotic hyperglycinemia". Biochem. Biophys. Res. Commun. 173 (3): 801–6. PMID 2268343.
- Burton BK, Pettenati MJ, Block SM; et al. (1989). "Nonketotic hyperglycinemia in a patient with the 9p- syndrome". Am. J. Med. Genet. 32 (4): 504–5. doi:10.1002/ajmg.1320320416. PMID 2773994.
- Hayasaka K, Kochi H, Hiraga K, Kikuchi G (1981). "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". J. Biochem. 88 (4): 1193–9. PMID 6778858.
- Hiraga K, Kochi H, Hayasaka K; et al. (1981). "Defective glycine cleavage system in nonketotic hyperglycinemia. Occurrence of a less active glycine decarboxylase and an abnormal aminomethyl carrier protein". J. Clin. Invest. 68 (2): 525–34. PMID 6790577.
- Takayanagi M, Kure S, Sakata Y; et al. (2000). "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". Hum. Genet. 106 (3): 298–305. PMID 10798358.
- Toone JR, Applegarth DA, Coulter-Mackie MB, James ER (2000). "Biochemical and molecular investigations of patients with nonketotic hyperglycinemia". Mol. Genet. Metab. 70 (2): 116–21. doi:10.1006/mgme.2000.3000. PMID 10873393.
- Toone JR, Applegarth DA, Coulter-Mackie MB, James ER (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)". Mol. Genet. Metab. 72 (4): 322–5. doi:10.1006/mgme.2001.3158. PMID 11286506.
- Kure S, Kojima K, Ichinohe A; et al. (2002). "Heterozygous GLDC and GCSH gene mutations in transient neonatal hyperglycinemia". Ann. Neurol. 52 (5): 643–6. doi:10.1002/ana.10367. PMID 12402263.
- Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.
- Toone JR, Applegarth DA, Laliberte G (2003). "Gene Symbol: GLDC. Disease: NKH glycine encephalopathy". Hum. Genet. 113 (5): 465. PMID 14552331.
- Dinopoulos A, Kure S, Chuck G; et al. (2006). "Glycine decarboxylase mutations: a distinctive phenotype of nonketotic hyperglycinemia in adults". Neurology. 64 (7): 1255–7. doi:10.1212/01.WNL.0000156800.23776.40. PMID 15824356.
- Flusser H, Korman SH, Sato K; et al. (2006). "Mild glycine encephalopathy (NKH) in a large kindred due to a silent exonic GLDC splice mutation". Neurology. 64 (8): 1426–30. doi:10.1212/01.WNL.0000158475.12907.D6. PMID 15851735.
- Boneh A, Korman SH, Sato K; et al. (2005). "A single nucleotide substitution that abolishes the initiator methionine codon of the GLDC gene is prevalent among patients with glycine encephalopathy in Jerusalem". J. Hum. Genet. 50 (5): 230–4. doi:10.1007/s10038-005-0243-y. PMID 15864413.
- Kimura K, Wakamatsu A, Suzuki Y; et al. (2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMID 16344560.
- Korman SH, Wexler ID, Gutman A; et al. (2006). "Treatment from birth of nonketotic hyperglycinemia due to a novel GLDC mutation". Ann. Neurol. 59 (2): 411–5. doi:10.1002/ana.20759. PMID 16404748.
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