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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.

Read more about gene names and symbols on the About page.

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 47,942,656 to 48,001,326

(Homo sapiens Annotation Release 107, GRCh38.p2) (NCBIThis link leads to a site outside Genetics Home Reference.)

The SUCLA2 gene is located on the long (q) arm of chromosome 13 at position 14.2.

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 47,942,656 to base pair 48,001,326 on chromosome 13.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about SUCLA2?

You and your healthcare professional may find the following resources about SUCLA2 helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the SUCLA2 gene or gene products?

  • A-BETA
  • ATP-specific succinyl-CoA synthetase, beta subunit
  • renal carcinoma antigen NY-REN-39
  • SCS-betaA
  • succinate-CoA ligase, ADP-forming, beta subunit precursor

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding SUCLA2?

ADP ; ATP ; carcinoma ; CoA ; coenzyme A ; deficiency ; depletion ; DNA ; enzyme ; gene ; hypotonia ; kinase ; ligase ; mitochondria ; muscle tone ; nucleoside ; oxygen ; precursor ; renal ; subunit

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

References (8 links)


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 healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

Reviewed: August 2009
Published: February 8, 2016