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Genetics Home Reference: your guide to understanding genetic conditions
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TAZ

Reviewed July 2014

What is the official name of the TAZ gene?

The official name of this gene is “tafazzin.”

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 protein called tafazzin. Several different versions (isoforms) of the tafazzin protein are produced from the TAZ gene. Most isoforms are found in all tissues, but some are found only in certain types of cells. Tafazzin is located in structures called mitochondria, which are the energy-producing centers of cells. Tafazzin is involved in altering a fat (lipid) called cardiolipin, which plays critical roles in the mitochondrial inner membrane. Tafazzin adds a fatty acid called linoleic acid to the cardiolipin molecule, which enables cardiolipin to perform its functions. Cardiolipin is necessary for maintaining mitochondrial shape, energy production, and protein transport within cells.

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

Barth syndrome - caused by mutations in the TAZ gene

More than 160 mutations in the TAZ gene have been found to cause Barth syndrome. This rare condition occurs almost exclusively in males and is characterized by an enlarged and weakened heart (dilated cardiomyopathy), muscle weakness, recurrent infections, and short stature. TAZ gene mutations that cause Barth syndrome result in the production of tafazzin proteins with little or no function. As a result, linoleic acid is not added to cardiolipin, which causes problems with normal mitochondrial shape and functions such as energy production and protein transport. Tissues with high energy demands, such as the heart and other muscles, are most susceptible to cell death due to reduced energy production in mitochondria. Additionally, affected white blood cells have abnormally shaped mitochondria, which could impair their ability to grow (proliferate) and mature (differentiate), leading to a weakened immune system and recurrent infections. Dysfunctional mitochondria likely lead to other signs and symptoms of Barth syndrome.

other disorders - caused by mutations in the TAZ gene

Some mutations in the TAZ gene cause dilated cardiomyopathy without the other features of Barth syndrome (described above). Dilated cardiomyopathy is a condition in which the heart becomes weakened and enlarged and cannot pump blood efficiently, often resulting in heart failure. The decreased blood flow can lead to swelling in the legs and abdomen, fluid in the lungs, and an increased risk of blood clots.

Mutations in the TAZ gene can also cause a heart 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. In INVM, the heart muscle is weakened and cannot pump blood efficiently. Abnormal heart rhythms (arrhythmias) can also occur. INVM frequently causes heart failure.

Where is the TAZ gene located?

Cytogenetic Location: Xq28

Molecular Location on the X chromosome: base pairs 154,411,517 to 154,421,725

The TAZ gene is located on the long (q) arm of the X chromosome at position 28.

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 154,411,517 to base pair 154,421,725 on the X chromosome.

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 TAZ?

You and your healthcare professional may find the following resources about TAZ 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 TAZ gene or gene products?

  • BTHS
  • CMD3A
  • EFE
  • EFE2
  • G4.5
  • LVNCX
  • tafazzin (cardiomyopathy, dilated 3A (X-linked); endocardial fibroelastosis 2; Barth syndrome)
  • TAZ_HUMAN
  • XAP-2

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 TAZ?

cardiomyopathy ; cell ; dilated ; familial ; gene ; heart failure ; immune system ; isoforms ; lipid ; mitochondria ; molecule ; myocardium ; proliferate ; protein ; short stature ; stature ; syndrome ; ventricle ; white blood cells

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

References

  • Aprikyan AA, Khuchua Z. Advances in the understanding of Barth syndrome. Br J Haematol. 2013 May;161(3):330-8. doi: 10.1111/bjh.12271. Epub 2013 Feb 25. Review. (http://www.ncbi.nlm.nih.gov/pubmed/23432031?dopt=Abstract)
  • Barth PG, Valianpour F, Bowen VM, Lam J, Duran M, Vaz FM, Wanders RJ. X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): an update. Am J Med Genet A. 2004 May 1;126A(4):349-54. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15098233?dopt=Abstract)
  • Bione S, D'Adamo P, Maestrini E, Gedeon AK, Bolhuis PA, Toniolo D. A novel X-linked gene, G4.5. is responsible for Barth syndrome. Nat Genet. 1996 Apr;12(4):385-9. (http://www.ncbi.nlm.nih.gov/pubmed/8630491?dopt=Abstract)
  • Gonzalez IL. Barth syndrome: TAZ gene mutations, mRNAs, and evolution. Am J Med Genet A. 2005 May 1;134(4):409-14. (http://www.ncbi.nlm.nih.gov/pubmed/15793838?dopt=Abstract)
  • Hong JH, Hwang ES, McManus MT, Amsterdam A, Tian Y, Kalmukova R, Mueller E, Benjamin T, Spiegelman BM, Sharp PA, Hopkins N, Yaffe MB. TAZ, a transcriptional modulator of mesenchymal stem cell differentiation. Science. 2005 Aug 12;309(5737):1074-8. (http://www.ncbi.nlm.nih.gov/pubmed/16099986?dopt=Abstract)
  • Houtkooper RH, Turkenburg M, Poll-The BT, Karall D, Pérez-Cerdá C, Morrone A, Malvagia S, Wanders RJ, Kulik W, Vaz FM. The enigmatic role of tafazzin in cardiolipin metabolism. Biochim Biophys Acta. 2009 Oct;1788(10):2003-14. doi: 10.1016/j.bbamem.2009.07.009. Epub 2009 Jul 18. Review. (http://www.ncbi.nlm.nih.gov/pubmed/19619503?dopt=Abstract)
  • Kirwin SM, Manolakos A, Barnett SS, Gonzalez IL. Tafazzin splice variants and mutations in Barth syndrome. Mol Genet Metab. 2014 Jan;111(1):26-32. doi: 10.1016/j.ymgme.2013.11.006. Epub 2013 Nov 19. (http://www.ncbi.nlm.nih.gov/pubmed/24342716?dopt=Abstract)
  • Lu B, Kelher MR, Lee DP, Lewin TM, Coleman RA, Choy PC, Hatch GM. Complex expression pattern of the Barth syndrome gene product tafazzin in human cell lines and murine tissues. Biochem Cell Biol. 2004 Oct;82(5):569-76. (http://www.ncbi.nlm.nih.gov/pubmed/15499385?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/6901)
  • OMIM: TAFAZZIN (http://omim.org/entry/300394)

 

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.

 
Reviewed: July 2014
Published: July 27, 2015