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Genetics Home Reference: your guide to understanding genetic conditions
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SLC25A4

Reviewed June 2011

What is the official name of the SLC25A4 gene?

The official name of this gene is “solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4.”

SLC25A4 is the gene's official symbol. The SLC25A4 gene is also known by other names, listed below.

What is the normal function of the SLC25A4 gene?

The SLC25A4 gene provides the instructions for making a protein called adenine nucleotide translocase type 1 (ANT1). ANT1 functions in mitochondria, which are structures within cells that convert the energy from food into a form that cells can use. This process, called oxidative phosphorylation, converts adenosine diphosphate (ADP) into adenosine triphosphate (ATP), the cell's main energy source. ANT1 forms a channel in the mitochondrion's inner membrane. This channel allows ADP into the mitochondrion and ATP out of the mitochondrion to be used as energy for the cell. ANT1 may also be a part of another structure in the inner membrane called the mitochondrial permeability transition pore. This structure allows various molecules to pass into the mitochondrion and is thought to play a role in the self-destruction (apoptosis) of the cell.

Does the SLC25A4 gene share characteristics with other genes?

The SLC25A4 gene belongs to a family of genes called SLC (solute carriers).

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? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) in the Handbook.

How are changes in the SLC25A4 gene related to health conditions?

progressive external ophthalmoplegia - caused by mutations in the SLC25A4 gene

At least five mutations in the SLC25A4 gene have been reported to cause an eye condition called progressive external ophthalmoplegia. This disorder weakens the muscles that control eye movement and causes the eyelids to droop (ptosis). However, the role mutated ANT1 plays in causing the condition is not well understood.

Mitochondria each contain a small amount of DNA, known as mitochondrial DNA (mtDNA), which is essential for the normal function of these structures. Although the mechanism is unclear, mutations in the SLC25A4 gene result in large deletions of genetic material from mtDNA in muscle tissue. Researchers have not determined how deletions of mtDNA lead to the specific signs and symptoms of progressive external ophthalmoplegia, although the features of the condition are probably related to impaired oxidative phosphorylation. It has been suggested that eye muscles are commonly affected by mitochondrial defects because they are especially dependent on oxidative phosphorylation for energy.

Where is the SLC25A4 gene located?

Cytogenetic Location: 4q35

Molecular Location on chromosome 4: base pairs 185,143,262 to 185,150,383

The SLC25A4 gene is located on the long (q) arm of chromosome 4 at position 35.

The SLC25A4 gene is located on the long (q) arm of chromosome 4 at position 35.

More precisely, the SLC25A4 gene is located from base pair 185,143,262 to base pair 185,150,383 on chromosome 4.

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 SLC25A4?

You and your healthcare professional may find the following resources about SLC25A4 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 SLC25A4 gene or gene products?

  • AAC1
  • adenine nucleotide translocator 1 (skeletal muscle)
  • ADP,ATP carrier protein 1
  • ADP,ATP carrier protein, heart/skeletal muscle
  • ADP/ATP translocase 1
  • ADT1_HUMAN
  • ANT
  • ANT1
  • ANT 1
  • heart/skeletal muscle ATP/ADP translocator
  • PEO2
  • PEO3
  • solute carrier family 25 member 4
  • T1

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 SLC25A4?

adenine ; adenosine diphosphate ; adenosine triphosphate ; ADP ; apoptosis ; ATP ; carrier ; cell ; channel ; DNA ; gene ; mitochondria ; nucleotide ; ophthalmoplegia ; oxidative phosphorylation ; permeability ; phosphorylation ; protein ; ptosis ; skeletal muscle ; solute ; tissue

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Chen XJ. Induction of an unregulated channel by mutations in adenine nucleotide translocase suggests an explanation for human ophthalmoplegia. Hum Mol Genet. 2002 Aug 1;11(16):1835-43. (http://www.ncbi.nlm.nih.gov/pubmed/12140186?dopt=Abstract)
  • Fontanesi F, Palmieri L, Scarcia P, Lodi T, Donnini C, Limongelli A, Tiranti V, Zeviani M, Ferrero I, Viola AM. Mutations in AAC2, equivalent to human adPEO-associated ANT1 mutations, lead to defective oxidative phosphorylation in Saccharomyces cerevisiae and affect mitochondrial DNA stability. Hum Mol Genet. 2004 May 1;13(9):923-34. Epub 2004 Mar 11. (http://www.ncbi.nlm.nih.gov/pubmed/15016764?dopt=Abstract)
  • Kaukonen J, Juselius JK, Tiranti V, Kyttälä A, Zeviani M, Comi GP, Keränen S, Peltonen L, Suomalainen A. Role of adenine nucleotide translocator 1 in mtDNA maintenance. Science. 2000 Aug 4;289(5480):782-5. (http://www.ncbi.nlm.nih.gov/pubmed/10926541?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/291)
  • Sharer JD. The adenine nucleotide translocase type 1 (ANT1): a new factor in mitochondrial disease. IUBMB Life. 2005 Sep;57(9):607-14. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16203679?dopt=Abstract)
  • OMIM: SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER, ADENINE NUCLEOTIDE TRANSLOCATOR), MEMBER 4 (http://omim.org/entry/103220)
  • Van Goethem G, Martin JJ, Van Broeckhoven C. Progressive external ophthalmoplegia characterized by multiple deletions of mitochondrial DNA: unraveling the pathogenesis of human mitochondrial DNA instability and the initiation of a genetic classification. Neuromolecular Med. 2003;3(3):129-46. Review. (http://www.ncbi.nlm.nih.gov/pubmed/12835509?dopt=Abstract)
  • Yu Wai Man CY, Chinnery PF, Griffiths PG. Extraocular muscles have fundamentally distinct properties that make them selectively vulnerable to certain disorders. Neuromuscul Disord. 2005 Jan;15(1):17-23. Epub 2004 Nov 26. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15639116?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 healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: June 2011
Published: December 16, 2014