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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.
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.
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.
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.
Cytogenetic Location: 4q35
Molecular Location on chromosome 4: base pairs 186,064,416 to 186,071,537
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 186,064,416 to base pair 186,071,537 on chromosome 4.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
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.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
adenine ; adenosine diphosphate ; adenosine triphosphate ; ADP ; apoptosis ; ATP ; carrier ; cell ; channel ; DNA ; gene ; mitochondria ; nucleotide ; ophthalmoplegia ; oxidative phosphorylation ; 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).
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.