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Genetics Home Reference: your guide to understanding genetic conditions     A service of the U.S. National Library of Medicine®


Reviewed October 2012

What is the official name of the SURF1 gene?

The official name of this gene is “surfeit 1.”

SURF1 is the gene's official symbol. The SURF1 gene is also known by other names, listed below.

What is the normal function of the SURF1 gene?

The SURF1 gene provides instructions for making a protein that is important in oxidative phosphorylation, the process by which the energy from food is converted into a form cells can use. Oxidative phosphorylation involves a series of reactions that take place through several different protein complexes. The SURF1 protein aids in the correct assembly of one of the protein complexes, or enzymes, involved in oxidative phosphorylation called complex IV.

Complex IV, also known as cytochrome c oxidase or COX, accepts negatively charged particles (electrons) from earlier steps in oxidative phosphorylation. In addition, the enzyme accepts positively charged particles (protons) from inside the mitochondrion. Using the electrons and protons, the COX enzyme performs a chemical reaction that converts oxygen to water. The enzyme also transfers additional protons across the specialized membrane inside the mitochondrion. These processes create energy that is used to generate ATP, the cell's main energy source.

Does the SURF1 gene share characteristics with other genes?

The SURF1 gene belongs to a family of genes called mitochondrial respiratory chain complex assembly factors (mitochondrial respiratory chain complex assembly factors).

A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? ( in the Handbook.

How are changes in the SURF1 gene related to health conditions?

Leigh syndrome - associated with the SURF1 gene

More than 40 different SURF1 gene mutations have been identified in people with Leigh syndrome, a progressive brain disorder that usually appears in infancy or early childhood. Affected children may experience delayed development, muscle weakness, problems with movement, or difficulty breathing.

Approximately 10 to 15 percent of people with Leigh syndrome have a mutation in the SURF1 gene. Most SURF1 gene mutations result in an abnormally short protein. Other mutations replace a single protein building block in the SURF1 protein. The mutated proteins are broken down in the cell, which results in the absence of SURF1 protein. Lack of SURF1 protein hinders the proper formation of the COX complex. As a result, COX enzyme activity is severely reduced, which leads to impaired oxidative phosphorylation.

Although the exact mechanism is unclear, researchers believe that impaired oxidative phosphorylation can lead to cell death because of decreased energy available in the cell. Certain tissues that require large amounts of energy, such as the brain, muscles, and heart, seem especially sensitive to decreases in cellular energy. Cell death in the brain likely causes the characteristic changes in the brain seen in Leigh syndrome, which contribute to the signs and symptoms of the condition. Cell death in other sensitive tissues may also contribute to the features of Leigh syndrome.

Where is the SURF1 gene located?

Cytogenetic Location: 9q34.2

Molecular Location on chromosome 9: base pairs 133,351,804 to 133,356,484

The SURF1 gene is located on the long (q) arm of chromosome 9 at position 34.2.

The SURF1 gene is located on the long (q) arm of chromosome 9 at position 34.2.

More precisely, the SURF1 gene is located from base pair 133,351,804 to base pair 133,356,484 on chromosome 9.

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

Where can I find additional information about SURF1?

You and your healthcare professional may find the following resources about SURF1 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 SURF1 gene or gene products?

  • SURF-1
  • surfeit locus protein 1

See How are genetic conditions and genes named? ( in the Handbook.

What glossary definitions help with understanding SURF1?

ATP ; cell ; charged particles ; deficiency ; enzyme ; gene ; locus ; mutation ; oxidase ; oxidative phosphorylation ; oxygen ; phosphorylation ; protein ; syndrome

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


  • Finsterer J. Leigh and Leigh-like syndrome in children and adults. Pediatr Neurol. 2008 Oct;39(4):223-35. doi: 10.1016/j.pediatrneurol.2008.07.013. Review. (
  • NCBI Gene (
  • Pecina P, Capková M, Chowdhury SK, Drahota Z, Dubot A, Vojtísková A, Hansíková H, Houst'ková H, Zeman J, Godinot C, Houstek J. Functional alteration of cytochrome c oxidase by SURF1 mutations in Leigh syndrome. Biochim Biophys Acta. 2003 Sep 1;1639(1):53-63. (
  • Péquignot MO, Dey R, Zeviani M, Tiranti V, Godinot C, Poyau A, Sue C, Di Mauro S, Abitbol M, Marsac C. Mutations in the SURF1 gene associated with Leigh syndrome and cytochrome C oxidase deficiency. Hum Mutat. 2001 May;17(5):374-81. (
  • Yao J, Shoubridge EA. Expression and functional analysis of SURF1 in Leigh syndrome patients with cytochrome c oxidase deficiency. Hum Mol Genet. 1999 Dec;8(13):2541-9. (


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: October 2012
Published: October 5, 2015