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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.
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).
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.
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).
Cytogenetic Location: 19q13.32
Molecular Location on chromosome 19: base pairs 46,031,024 to 46,088,121
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 46,031,024 to base pair 46,088,121 on chromosome 19.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
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.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
acids ; aciduria ; amino acid ; apoptosis ; atrophy ; autosomal ; autosomal dominant ; autosomal recessive ; cataract ; cell ; chorea ; deficiency ; gene ; 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 (http://www.ghr.nlm.nih.gov/glossary).
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? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.