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TAFAZZIN gene
URL of this page: https://medlineplus.gov/genetics/gene/tafazzin/

TAFAZZIN gene

tafazzin, phospholipid-lysophospholipid transacylase

Normal Function

The TAFAZZIN gene provides instructions for producing a protein called tafazzin. Several different versions (isoforms) of the tafazzin protein are produced from the TAFAZZIN gene. Most isoforms are found in all tissues, but some are found only in certain types of cells. The tafazzin protein 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. The tafazzin protein 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.

Health Conditions Related to Genetic Changes

Barth syndrome

More than 130 mutations in the TAFAZZIN gene have been found to cause Barth syndrome. This rare condition occurs almost exclusively in males and is characterized by a weakened heart (cardiomyopathy), muscle weakness, recurrent infections, and short stature. TAFAZZIN 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 results in a reduction of functional cardiolipin. In addition, a variant of cardiolipin called monolysocardiolipin (MLCL) is formed. A lack of functional cardiolipin and an excess of MLCL are thought to cause 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), mature (differentiate), and function, leading to a weakened immune system and recurrent infections. Dysfunctional mitochondria likely lead to other signs and symptoms of Barth syndrome.

More About This Health Condition

Familial dilated cardiomyopathy

MedlinePlus Genetics provides information about Familial dilated cardiomyopathy

More About This Health Condition

Left ventricular noncompaction

MedlinePlus Genetics provides information about Left ventricular noncompaction

More About This Health Condition

Other disorders

Some mutations in the TAFAZZIN 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 TAFAZZIN 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.

Other Names for This Gene

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

Additional Information & Resources

Tests Listed in the Genetic Testing Registry

Scientific Articles on PubMed

Catalog of Genes and Diseases from OMIM

Gene and Variant Databases

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. Citation on PubMed
  • 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. doi: 10.1002/ajmg.a.20660. Citation on PubMed
  • 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. doi: 10.1038/ng0496-385. Citation on PubMed
  • Gonzalez IL. Barth syndrome: TAZ gene mutations, mRNAs, and evolution. Am J Med Genet A. 2005 May 1;134(4):409-14. doi: 10.1002/ajmg.a.30661. Citation on PubMed
  • 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. doi: 10.1126/science.1110955. Citation on PubMed
  • Houtkooper RH, Turkenburg M, Poll-The BT, Karall D, Perez-Cerda 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. Citation on PubMed
  • 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. Citation on PubMed
  • 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. doi: 10.1139/o04-055. Citation on PubMed
  • Schlame M, Xu Y. The Function of Tafazzin, a Mitochondrial Phospholipid-Lysophospholipid Acyltransferase. J Mol Biol. 2020 Aug 21;432(18):5043-5051. doi: 10.1016/j.jmb.2020.03.026. Epub 2020 Mar 29. Citation on PubMed

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