GLDC

From Wikipedia, the free encyclopedia

Glycine dehydrogenase (decarboxylating)

Identifiers

GLDC; GCE; NKH; GCSP; HYGN1; MGC138198; MGC138200

External IDs

OMIM: 238300 MGI: 1341155 HomoloGene: 141

Gene ontology
Molecular Function:	• glycine dehydrogenase (decarboxylating) activity • electron carrier activity
Cellular Component:	• mitochondrion • glycine dehydrogenase complex (decarboxylating)
Biological Process:	• glycine catabolic process

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_000170 (mRNA)
NP_000161 (protein)

NM_138595 (mRNA)
NP_613061 (protein)

Location

Chr 9: 6.52 - 6.64 Mb

Chr 19: 30.16 - 30.24 Mb

Pubmed search

[1]

[2]

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]

[edit] References

^ ^a ^b Entrez Gene: GLDC glycine dehydrogenase (decarboxylating).

[edit] 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.