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Reviewed July 2014

What is the official name of the OPA3 gene?

The official name of this gene is “optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia).”

OPA3 is the gene's official symbol. The OPA3 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 OPA3 gene?

The OPA3 gene provides instructions for making a protein whose exact function is unknown. The OPA3 protein is found in structures called mitochondria, which are the energy-producing centers of cells. Researchers speculate that the OPA3 protein is involved in regulating the shape of mitochondria.

How are changes in the OPA3 gene related to health conditions?

Costeff syndrome - caused by mutations in the OPA3 gene

At least three mutations in the OPA3 gene have been found to cause Costeff syndrome. This condition is characterized by vision loss, movement problems, and intellectual disability. Costeff syndrome is caused by mutations in both copies of the OPA3 gene in each cell, leading to a loss of OPA3 protein function. An OPA3 gene mutation that causes Costeff syndrome in the Iraqi Jewish population (written as 143-1G>C) alters the way the OPA3 gene's instructions are put together to make the protein, which results in a lack of functional protein. Cells without any functional OPA3 protein have abnormally shaped mitochondria. These cells likely have reduced energy production and die sooner than normal, decreasing energy availability in the body's tissues. It is unclear why cells that control vision and movement are particularly affected.

other disorders - caused by mutations in the OPA3 gene

OPA3 gene mutations can also cause autosomal dominant optic atrophy and cataract (ADOAC). People with this condition have degeneration (atrophy) of the optic nerves, which carry information from the eyes to the brain, and clouding of the lens of the eye (cataract). These vision problems often occur in both eyes and can begin anytime from childhood to early adulthood. Some affected individuals have additional features such as hearing loss or movement problems.

People with ADOAC have a mutation in one copy of the OPA3 gene in each cell. The mutations that cause ADOAC likely result in the production of an abnormal OPA3 protein that interferes with the functions of the cell. These cells likely have decreased energy production, leading to early cell death. It is unclear why cells within the eyes are particularly affected.

Where is the OPA3 gene located?

Cytogenetic Location: 19q13.32

Molecular Location on chromosome 19: base pairs 45,526,863 to 45,584,864

(Homo sapiens Annotation Release 107, GRCh38.p2) (NCBIThis link leads to a site outside Genetics Home Reference.)

The OPA3 gene is located on the long (q) arm of chromosome 19 at position 13.32.

The OPA3 gene is located on the long (q) arm of chromosome 19 at position 13.32.

More precisely, the OPA3 gene is located from base pair 45,526,863 to base pair 45,584,864 on chromosome 19.

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

Where can I find additional information about OPA3?

You and your healthcare professional may find the following resources about OPA3 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 OPA3 gene or gene products?

  • FLJ22187
  • FLJ25932
  • MGA3
  • MGC75494
  • OPA3 protein

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 OPA3?

atrophy ; autosomal ; autosomal dominant ; autosomal recessive ; cataract ; cell ; chorea ; disability ; gene ; mitochondria ; mutation ; optic atrophy ; paraplegia ; population ; protein ; recessive ; syndrome

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

See also Understanding Medical Terminology.

References (8 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.

Reviewed: July 2014
Published: February 1, 2016