Reviewed November 2007
What is the official name of the TAZ gene?
The official name of this gene is “tafazzin (cardiomyopathy, dilated 3A (X-linked); endocardial fibroelastosis 2; Barth syndrome).”
TAZ is the gene's official symbol. The TAZ gene is also known by other names, listed below.
What is the normal function of the TAZ gene?
The TAZ gene provides instructions for producing a group of proteins called tafazzins. Tafazzins seem to have two distinct functions in cells and tissues. First, tafazzins play a role in the maintenance of the inner membrane of energy-producing centers inside of cells (the mitochondria). Specifically, these proteins are involved in maintaining levels of a specific type of fat (lipid) called cardiolipin. Adequate levels of cardiolipin are essential for energy production in the mitochondria. Tafazzins also promote the differentiation and maturation of cells that build bones (osteoblasts), while preventing cells that store fat (adipocytes) from maturing.
How are changes in the TAZ gene related to health conditions?
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3-methylglutaconic aciduria - caused by mutations in the TAZ gene
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More than 70 mutations in the TAZ gene have been shown to cause 3-methylglutaconic aciduria type II, commonly known as Barth syndrome. Many of these mutations change a single protein building block (amino acid) in the tafazzin protein. Some mutations cause an abnormally small protein to be made. Other mutations disrupt the way the gene's instructions are used to make the protein. All of these mutations change the structure of tafazzin and prevent it from performing its normal role in maintaining cardiolipin levels in the mitochondria. It is not well understood how defects in tafazzin lead to the signs and symptoms of Barth syndrome.
- other disorders - caused by mutations in the TAZ gene
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Mutations in the TAZ gene are sometimes responsible for a condition called X-linked dilated cardiomyopathy. This is a condition in which the heart becomes weakened and enlarged, and cannot pump blood efficiently (heart failure). The decreased heart function can negatively affect many body systems and lead to swelling in the legs and abdomen, fluid in the lungs, and an increased risk of blood clots.
Mutations in the TAZ gene also sometimes cause a condition called isolated noncompaction of left ventricular myocardium (INVM). This condition occurs when the lower left chamber of the heart (left ventricle) does not develop correctly. The heart muscle is weakened and cannot pump blood efficiently, often leading to heart failure. Sometimes abnormal heart rhythms, called arrhythmias, can also occur.
Where is the TAZ gene located?
Cytogenetic Location: Xq28
Molecular Location on the X chromosome: base pairs 153,293,070 to 153,303,258
The TAZ gene is located on the long (q) arm of the X chromosome at position 28.
More precisely, the TAZ gene is located from base pair 153,293,070 to base pair 153,303,258 on the X chromosome.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about TAZ?
You and your healthcare professional may find the following resources about TAZ helpful.
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Gene Tests - DNA tests ordered by healthcare professionals (4 links)
You may also be interested in these resources, which are designed for genetics professionals and researchers.
- PubMed - Recent literature
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OMIM - Genetic disorder catalog (3 links)
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What other names do people use for the TAZ gene or gene products?
- BTHS
- cardiomyopathy, dilated 3A (X-linked)
- CMD3A
- EFE
- EFE2
- G4.5
- LVNCX
- tafazzin
- TAZ_HUMAN
- XAP-2
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 TAZ?
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.