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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?
Where is the OPA3 gene located?
Cytogenetic Location: 19q13.32
Molecular Location on chromosome 19: base pairs 45,526,862 to 45,584,863
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 45,526,862 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?
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 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)