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.
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) (NCBI (http://www.ncbi.nlm.nih.gov/gene/80207))
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? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
Where can I find additional information about OPA3?
You and your healthcare professional may find the following resources about OPA3 helpful.
Educational resources - Information pages
- Molecular Biology of the Cell (fourth edition, 2002): The Mitochondrion (http://www.ncbi.nlm.nih.gov/books/NBK26894/)
- The Cell: A Molecular Approach (second edition, 2000): Mitochondria (http://www.ncbi.nlm.nih.gov/books/NBK9896/)
- Gene Reviews - Clinical summary (http://www.ncbi.nlm.nih.gov/books/NBK1473)
Genetic Testing Registry - Repository of genetic test information
- GTR: Genetic tests for OPA3 (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=80207%5Bgeneid%5D)
You may also be interested in these resources, which are designed for genetics professionals and researchers.
- PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=%28%28OPA3%5BTIAB%5D%29%20OR%20%28optic%20atrophy%203%5BTIAB%5D%29%29%20AND%20%28%28Genes%5BMH%5D%29%20OR%20%28Genetic%20Phenomena%5BMH%5D%29%29%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%203600%20days%22%5Bdp%5D)
OMIM - Genetic disorder catalog
- OPA3 GENE (http://omim.org/entry/606580)
- OPTIC ATROPHY 3, AUTOSOMAL DOMINANT (http://omim.org/entry/165300)
Research Resources - Tools for researchers
- HGNC Gene Symbol Report (http://www.genenames.org/cgi-bin/gene_symbol_report?q=data/hgnc_data.php&hgnc_id=8142)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/80207)
What other names do people use for the OPA3 gene or gene products?
- OPA3 protein
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
What glossary definitions help with understanding OPA3?
autosomal dominant ;
autosomal recessive ;
optic atrophy ;
You may find definitions for these and many other terms in the Genetics Home Reference
- Anikster Y, Kleta R, Shaag A, Gahl WA, Elpeleg O. Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): identification of the OPA3 gene and its founder mutation in Iraqi Jews. Am J Hum Genet. 2001 Dec;69(6):1218-24. Epub 2001 Oct 19. (http://www.ncbi.nlm.nih.gov/pubmed/11668429?dopt=Abstract)
- Grau T, Burbulla LF, Engl G, Delettre C, Delprat B, Oexle K, Leo-Kottler B, Roscioli T, Krüger R, Rapaport D, Wissinger B, Schimpf-Linzenbold S. A novel heterozygous OPA3 mutation located in the mitochondrial target sequence results in altered steady-state levels and fragmented mitochondrial network. J Med Genet. 2013 Dec;50(12):848-58. doi: 10.1136/jmedgenet-2013-101774. Epub 2013 Oct 17. (http://www.ncbi.nlm.nih.gov/pubmed/24136862?dopt=Abstract)
- Huizing M, Dorward H, Ly L, Klootwijk E, Kleta R, Skovby F, Pei W, Feldman B, Gahl WA, Anikster Y. OPA3, mutated in 3-methylglutaconic aciduria type III, encodes two transcripts targeted primarily to mitochondria. Mol Genet Metab. 2010 Jun;100(2):149-54. doi: 10.1016/j.ymgme.2010.03.005. Epub 2010 Mar 16. (http://www.ncbi.nlm.nih.gov/pubmed/20350831?dopt=Abstract)
- Kleta R, Skovby F, Christensen E, Rosenberg T, Gahl WA, Anikster Y. 3-Methylglutaconic aciduria type III in a non-Iraqi-Jewish kindred: clinical and molecular findings. Mol Genet Metab. 2002 Jul;76(3):201-6. (http://www.ncbi.nlm.nih.gov/pubmed/12126933?dopt=Abstract)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/80207)
- Neas K, Bennetts B, Carpenter K, White R, Kirk EP, Wilson M, Kelley R, Baric I, Christodoulou J. OPA3 mutation screening in patients with unexplained 3-methylglutaconic aciduria. J Inherit Metab Dis. 2005;28(4):525-32. (http://www.ncbi.nlm.nih.gov/pubmed/15902555?dopt=Abstract)
- Reynier P, Amati-Bonneau P, Verny C, Olichon A, Simard G, Guichet A, Bonnemains C, Malecaze F, Malinge MC, Pelletier JB, Calvas P, Dollfus H, Belenguer P, Malthièry Y, Lenaers G, Bonneau D. OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract. J Med Genet. 2004 Sep;41(9):e110. (http://www.ncbi.nlm.nih.gov/pubmed/15342707?dopt=Abstract)
- Ryu SW, Jeong HJ, Choi M, Karbowski M, Choi C. Optic atrophy 3 as a protein of the mitochondrial outer membrane induces mitochondrial fragmentation. Cell Mol Life Sci. 2010 Aug;67(16):2839-50. doi: 10.1007/s00018-010-0365-z. Epub 2010 Apr 8. (http://www.ncbi.nlm.nih.gov/pubmed/20372962?dopt=Abstract)
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
See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.