succinate-CoA ligase GDP/ADP-forming subunit alpha
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The SUCLG1 gene provides instructions for making one part (the alpha subunit) of an enzyme called succinyl-CoA ligase. The alpha subunit is used to make two slightly different versions of this enzyme. One version is most active in tissues such as the brain and muscle that require a large amount of energy, while the other version is most active in tissues that require less energy.
Normal function
The SUCLG1 gene provides instructions for making one part (the alpha subunit) of an enzyme called succinyl-CoA ligase. The alpha subunit is used to make two slightly different versions of this enzyme. One version is most active in tissues such as the brain and muscle that require a large amount of energy, while the other version is most active in tissues that require less energy.
Both versions of succinyl-CoA ligase play an important role in mitochondria, which are the energy-producing centers inside the cell. These enzymes are involved in a series of chemical reactions known as the citric acid cycle (or Krebs cycle). These reactions allow cells to use oxygen and produce energy.
Mitochondria each contain a small amount of DNA, known as mitochondrial DNA or mtDNA. Studies suggest that succinyl-CoA ligase interacts with another enzyme, called nucleoside diphosphate kinase, to produce and maintain the molecules that make up mtDNA. Having an adequate amount of mtDNA is essential for normal energy production within cells.
Conditions referring to this gene or chromosome
Otros nombres
GALPHA
succinate-CoA ligase, ADP-forming, alpha subunit
succinate-CoA ligase, GDP-forming, alpha subunit
succinyl-CoA synthetase, alpha subunit
SUCLA1
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Lecturas adicionales y referencias
- succinate-CoA ligase GDP/ADP-forming subunit alpha; MedlinePlus, National Library of Medicine.
- Carrozzo R, Verrigni D, Rasmussen M, de Coo R, Amartino H, Bianchi M, Buhas D, Mesli S, Naess K, Born AP, Woldseth B, Prontera P, Batbayli M, Ravn K, Joensen F, Cordelli DM, Santorelli FM, Tulinius M, Darin N, Duno M, Jouvencel P, Burlina A, Stangoni G, Bertini E, Redonnet-Vernhet I, Wibrand F, Dionisi-Vici C, Uusimaa J, Vieira P, Osorio AN, McFarland R, Taylor RW, Holme E, Ostergaard E. Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients. J Inherit Metab Dis. 2016 Mar;39(2):243-52. doi: 10.1007/s10545-015-9894-9. Epub 2015 Oct 16.
- El-Hattab AW, Scaglia F. SUCLG1-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria. 2017 Mar 30. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK425223/
- Kowluru A, Tannous M, Chen HQ. Localization and characterization of the mitochondrial isoform of the nucleoside diphosphate kinase in the pancreatic beta cell: evidence for its complexation with mitochondrial succinyl-CoA synthetase. Arch Biochem Biophys. 2002 Feb 15;398(2):160-9. doi: 10.1006/abbi.2001.2710.
- Lambeth DO, Tews KN, Adkins S, Frohlich D, Milavetz BI. Expression of two succinyl-CoA synthetases with different nucleotide specificities in mammalian tissues. J Biol Chem. 2004 Aug 27;279(35):36621-4. doi: 10.1074/jbc.M406884200. Epub 2004 Jul 2.
- Ostergaard E, Christensen E, Kristensen E, Mogensen B, Duno M, Shoubridge EA, Wibrand F. Deficiency of the alpha subunit of succinate-coenzyme A ligase causes fatal infantile lactic acidosis with mitochondrial DNA depletion. Am J Hum Genet. 2007 Aug;81(2):383-7. doi: 10.1086/519222. Epub 2007 Jun 4.
- Ostergaard E, Schwartz M, Batbayli M, Christensen E, Hjalmarson O, Kollberg G, Holme E. A novel missense mutation in SUCLG1 associated with mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduria. Eur J Pediatr. 2010 Feb;169(2):201-5. doi: 10.1007/s00431-009-1007-z. Epub 2009 Jun 14.
- Ostergaard E. Disorders caused by deficiency of succinate-CoA ligase. J Inherit Metab Dis. 2008 Apr;31(2):226-9. doi: 10.1007/s10545-008-0828-7. Epub 2008 Apr 4.
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