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OPA3

OPA3

Reviewed November 2007

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 producing a protein that is located in the cell's energy-producing centers (the mitochondria). The function of this protein is currently unknown. Researchers believe that it may play a role in the self-destruction of cells (apoptosis).

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

3-methylglutaconic aciduria - caused by mutations in the OPA3 gene

At least two mutations in the OPA3 gene have been identified in people with 3-methylglutaconic aciduria type III, also called Costeff optic atrophy syndrome. One of these mutations prevents any OPA3 protein from being made. The other mutation deletes a segment of the OPA3 gene, which leads to the production of an abnormally short OPA3 protein with reduced function. A deficiency of normal OPA3 protein leads to the signs and symptoms of 3-methylglutaconic aciduria type III.

other disorders - caused by mutations in the OPA3 gene

Researchers have identified at least two mutations in the OPA3 gene that cause autosomal dominant optic atrophy and cataract (ADOAC). Autosomal dominant inheritance means that a mutation in one copy of the OPA3 gene in each cell is sufficient to cause this disorder. These mutations most likely impair the normal function of the OPA3 protein. The defective protein leads to optic atrophy, which causes the nerve that carries visual information from the eyes to the brain (the optic nerve) to shrink. People affected by this condition may also develop a clouding of the lens of the eye (cataract), which also affects vision.

Both of the reported mutations change one of the protein building blocks (amino acids) used to make the OPA3 protein. One mutation substitutes the amino acid serine for the amino acid glycine at protein position 93 (written as Gly93Ser or G93S). The other mutation substitutes the amino acid glutamic acid for the amino acid glutamine at protein position 105 (written as Gln105Glu or Q105E).

Where is the OPA3 gene located?

Cytogenetic Location: 19q13.32

Molecular Location on chromosome 19: base pairs 45,527,766 to 45,584,863

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 45,527,766 to base pair 45,584,863 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_HUMAN
  • 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?

acids ; aciduria ; amino acid ; apoptosis ; atrophy ; autosomal ; autosomal dominant ; autosomal recessive ; cataract ; cell ; chorea ; deficiency ; gene ; glutamic acid ; glutamine ; glycine ; inheritance ; mitochondria ; mutation ; optic atrophy ; optic nerve ; paraplegia ; protein ; recessive ; serine ; syndrome

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

See also Understanding Medical Terminology.

References (4 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: November 2007
Published: July 21, 2014