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The official name of this gene is “solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1.”
SLC25A1 is the gene's official symbol. The SLC25A1 gene is also known by other names, listed below.
The SLC25A1 gene provides instructions for making a protein that is found in mitochondria, which are the energy-producing centers in cells. The SLC25A1 protein transports a molecule called citrate out of mitochondria in exchange for another molecule called malate, which is transported in. Within mitochondria, both citrate and malate participate in reactions that produce energy for cell activities. Citrate is transported out of mitochondria because it also has important functions in other parts of the cell. In particular, citrate is involved in the production of fats (lipids) and the regulation of glycolysis, which is another critical energy-producing process within cells.
The SLC25A1 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 12 mutations in the SLC25A1 gene have been found to cause a form of 2-hydroxyglutaric aciduria called combined D,L-2-hydroxyglutaric aciduria (D,L-2-HGA). This condition causes severe brain abnormalities that become apparent in early infancy.
Each of the known SLC25A1 gene mutations greatly reduces the function of the SLC25A1 protein. As a result, citrate and malate cannot be transported into and out of mitochondria, which disrupts energy production within cells. Through processes that are not fully understood, the lack of citrate and malate transport allows other compounds to build up abnormally within cells. These compounds include D-2-hydroxyglutarate and L-2-hydroxyglutarate, which at high levels can damage cells and lead to cell death. Brain cells appear to be the most vulnerable to the toxic effects of these compounds, which may explain why the signs and symptoms of D,L-2-HGA primarily involve the brain. Researchers suspect that an imbalance of other molecules, particularly citrate, also contributes to the severe signs and symptoms of combined D,L-2-HGA
Cytogenetic Location: 22q11.21
Molecular Location on chromosome 22: base pairs 19,163,087 to 19,166,337
The SLC25A1 gene is located on the long (q) arm of chromosome 22 at position 11.21.
More precisely, the SLC25A1 gene is located from base pair 19,163,087 to base pair 19,166,337 on chromosome 22.
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 SLC25A1 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.
aciduria ; carrier ; cell ; gene ; mitochondria ; molecule ; oxidative phosphorylation ; phosphorylation ; protein ; solute ; toxic
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.