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Reviewed June 2009
What is the official name of the OPA1 gene?
The official name of this gene is “optic atrophy 1 (autosomal dominant).”
OPA1 is the gene's official symbol. The OPA1 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 OPA1 gene?
The OPA1 gene provides instructions for making a protein that helps determine the shape and structure (morphology) of mitochondria, the energy-producing centers within cells. The OPA1 protein is made in many types of cells and tissues, including the brain, the light-sensitive tissue at the back of the eye (the retina), muscles used for movement (skeletal muscles), the liver, and the heart. Within cells, this protein is found in the inner membrane of mitochondria. Mitochondria are dynamic structures that undergo changes in morphology through processes called fission (splitting into smaller pieces) and fusion (combining pieces). These changes in morphology are necessary for mitochondria to function properly. The OPA1 protein helps to regulate the morphology of mitochondria by playing a key role in the fusion process.
The OPA1 protein is also involved in a process called oxidative phosphorylation, from which cells derive much of their energy. Additionally, the OPA1 protein plays a role in the maintenance of the small amount of DNA within mitochondria, called mitochondrial DNA (mtDNA), and in the self-destruction of cells (apoptosis).
How are changes in the OPA1 gene related to health conditions?
Where is the OPA1 gene located?
Cytogenetic Location: 3q29
Molecular Location on chromosome 3: base pairs 193,593,144 to 193,697,811
The OPA1 gene is located on the long (q) arm of chromosome 3 at position 29.
More precisely, the OPA1 gene is located from base pair 193,593,144 to base pair 193,697,811 on chromosome 3.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about OPA1?
You and your healthcare professional may find the following resources about OPA1 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 OPA1 gene or gene products?
See How are genetic conditions and genes named? in the Handbook.
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 OPA1?
amino acid ; apoptosis ; arginine ; ataxia ; atrophy ; autosomal ; autosomal dominant ; axons ; breakdown ; DNA ; domain ; gene ; histidine ; mitochondria ; morphology ; motor ; mutation ; neuropathy ; ophthalmoplegia ; optic atrophy ; optic nerve ; oxidative phosphorylation ; phosphorylation ; protein ; retina ; retinal ganglion ; retinal ganglion cells ; sensory neuropathy ; syndrome ; tissue
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (12 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.