Reviewed August 2009
What is the official name of the SUCLA2 gene?
The official name of this gene is “succinate-CoA ligase, ADP-forming, beta subunit.”
SUCLA2 is the gene's official symbol. The SUCLA2 gene is also known by other names, listed below.
What is the normal function of the SUCLA2 gene?
The SUCLA2 gene provides instructions for making one part (a beta subunit) of an enzyme called succinate-CoA ligase. The body makes two slightly different versions of this enzyme: ADP-forming succinate-CoA ligase (A-SUCL) and GDP-forming succinate-CoA ligase (G-SUCL). Only A-SUCL contains the beta subunit produced from the SUCLA2 gene. This version of the enzyme is most active in tissues that require a large amount of energy, such as those of the brain and muscles.
Succinate-CoA ligase plays a critical role in mitochondria, which are structures inside cells that convert the energy from food into a form that cells can use. Within mitochondria, this enzyme is involved in a series of chemical reactions known as the citric acid cycle or Krebs cycle. These reactions allow cells to use oxygen and generate energy.
Mitochondria each contain a small amount of DNA, known as mitochondrial DNA or mtDNA. Studies suggest that succinate-CoA ligase interacts with another enzyme, nucleoside diphosphate kinase, to produce and maintain the building blocks of mitochondrial DNA. Having an adequate amount of mitochondrial DNA is essential for normal energy production within cells.
How are changes in the SUCLA2 gene related to health conditions?
- succinate-CoA ligase deficiency - caused by mutations in the SUCLA2 gene
At least four mutations in the SUCLA2 gene have been identified in people with succinate-CoA ligase deficiency. Each of these mutations alters the structure of A-SUCL, reducing the enzyme's activity. However, SUCLA2 gene mutations do not affect the other version of succinate-CoA ligase, G-SUCL. Studies suggest that the activity of G-SUCL may be able to compensate for a loss of A-SUCL in some tissues.
A shortage (deficiency) of A-SUCL leads to problems with the production and maintenance of mitochondrial DNA in the brain, muscles, and other tissues that require a large amount of energy. A reduction in the amount of mitochondrial DNA (known as mitochondrial DNA depletion) impairs mitochondrial function and the production of energy within cells. These problems lead to weak muscle tone (hypotonia), delayed development, and the other characteristic features of succinate-CoA ligase deficiency.
Where is the SUCLA2 gene located?
Cytogenetic Location: 13q14.2
Molecular Location on chromosome 13: base pairs 47,942,655 to 48,001,325
The SUCLA2 gene is located on the long (q) arm of chromosome 13 at position 14.2.
More precisely, the SUCLA2 gene is located from base pair 47,942,655 to base pair 48,001,325 on chromosome 13.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
Where can I find additional information about SUCLA2?
You and your healthcare professional may find the following resources about SUCLA2 helpful.
Educational resources - Information pages
- Biochemistry (fifth edition, 2002): The Citric Acid Cycle (http://www.ncbi.nlm.nih.gov/books/NBK21163/)
- Human Molecular Genetics (second edition, 1999): The mitochondrial genome consists of a small circular DNA duplex which is densely packed with genetic information (http://www.ncbi.nlm.nih.gov/books/NBK7587/)
- Neuromuscular Disease Center, Washington University in St. Louis (http://neuromuscular.wustl.edu/mitosyn.html)
- Gene Reviews - Clinical summary (http://www.ncbi.nlm.nih.gov/books/NBK6803)
Genetic Testing Registry - Repository of genetic test information
- GTR: Genetic tests for SUCLA2 (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8803%5Bgeneid%5D)
You may also be interested in these resources, which are designed for genetics professionals and researchers.
- PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=%28SUCLA2%5BTIAB%5D%29%20OR%20%28%28succinate-CoA%20ligase%5BTIAB%5D%29%20AND%20%28beta%5BTIAB%5D%29%29%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%203600%20days%22%5Bdp%5D)
- OMIM - Genetic disorder catalog (http://omim.org/entry/603921)
Research Resources - Tools for researchers
- HGNC Gene Symbol Report (http://www.genenames.org/cgi-bin/gene_symbol_report?q=data/hgnc_data.php&hgnc_id=11448)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/8803)
What other names do people use for the SUCLA2 gene or gene products?
- ATP-specific succinyl-CoA synthetase, beta subunit
- renal carcinoma antigen NY-REN-39
- succinate-CoA ligase, ADP-forming, beta subunit precursor
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
What glossary definitions help with understanding SUCLA2?
coenzyme A ;
muscle tone ;
You may find definitions for these and many other terms in the Genetics Home Reference
- Carrozzo R, Dionisi-Vici C, Steuerwald U, Lucioli S, Deodato F, Di Giandomenico S, Bertini E, Franke B, Kluijtmans LA, Meschini MC, Rizzo C, Piemonte F, Rodenburg R, Santer R, Santorelli FM, van Rooij A, Vermunt-de Koning D, Morava E, Wevers RA. SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness. Brain. 2007 Mar;130(Pt 3):862-74. Epub 2007 Feb 14. (http://www.ncbi.nlm.nih.gov/pubmed/17301081?dopt=Abstract)
- Chinnery PF. Mutations in SUCLA2: a tandem ride back to the Krebs cycle. Brain. 2007 Mar;130(Pt 3):606-9. Review. (http://www.ncbi.nlm.nih.gov/pubmed/17347254?dopt=Abstract)
- Elpeleg O, Miller C, Hershkovitz E, Bitner-Glindzicz M, Bondi-Rubinstein G, Rahman S, Pagnamenta A, Eshhar S, Saada A. Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion. Am J Hum Genet. 2005 Jun;76(6):1081-6. Epub 2005 Apr 22. (http://www.ncbi.nlm.nih.gov/pubmed/15877282?dopt=Abstract)
- 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. (http://www.ncbi.nlm.nih.gov/pubmed/11831846?dopt=Abstract)
- 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. Epub 2004 Jul 2. (http://www.ncbi.nlm.nih.gov/pubmed/15234968?dopt=Abstract)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/8803)
- Ostergaard E, Hansen FJ, Sorensen N, Duno M, Vissing J, Larsen PL, Faeroe O, Thorgrimsson S, Wibrand F, Christensen E, Schwartz M. Mitochondrial encephalomyopathy with elevated methylmalonic acid is caused by SUCLA2 mutations. Brain. 2007 Mar;130(Pt 3):853-61. Epub 2007 Feb 7. (http://www.ncbi.nlm.nih.gov/pubmed/17287286?dopt=Abstract)
- 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. Review. (http://www.ncbi.nlm.nih.gov/pubmed/18392745?dopt=Abstract)
The resources on this site should not be used as a substitute for
professional medical care or advice. Users seeking information about
a personal genetic disease, syndrome, or condition should consult with a qualified
See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.