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TAFAZZIN gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

TAFAZZIN gene

The TAFAZZIN gene provides instructions for a protein that maintains the structure and function of mitochondria, the energy-producing centers of cells.

Normal Function

The TAFAZZIN gene provides instructions for producing a protein called tafazzin. This protein is located in mitochondria and is involved in altering a fat (lipid) called cardiolipin, which is critical for the mitochondrial inner membrane. Tafazzin adds a fatty acid called linoleic acid to the cardiolipin molecule, enabling it to maintain 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, a rare condition occurring almost exclusively in males. It is characterized by a weakened heart (cardiomyopathy), muscle weakness, recurrent infections, and short stature.

  • Mutations result in tafazzin proteins with little or no function, preventing the addition of linoleic acid to cardiolipin.
  • This leads to a reduction of functional cardiolipin and the formation of an abnormal variant called monolysocardiolipin (MLCL).
  • The lack of functional cardiolipin and excess of MLCL disrupt mitochondrial shape and energy production.
  • Tissues with high energy demands, such as the heart and muscles, are most susceptible to cell death.
  • Affected white blood cells have abnormally shaped mitochondria, which may impair immune system function and lead to recurrent infections.

Other disorders

Some mutations in the TAFAZZIN gene cause dilated cardiomyopathy without the other features of Barth syndrome. In this condition, the heart becomes weakened and enlarged, preventing it from pumping blood efficiently and potentially leading to heart failure, swelling, and an increased risk of blood clots.

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

Frequently Asked Questions

Key warning signs often include a weakened heart muscle (cardiomyopathy), which can manifest as poor feeding, lethargy, or difficulty breathing. Other signs include muscle weakness, which may cause developmental delays in motor skills, recurrent infections due to impaired immune function, and often short stature. These symptoms can vary in severity.
Barth syndrome is inherited in an X-linked recessive pattern. This means that the TAFAZZIN gene is located on the X chromosome. Males, who have only one X chromosome, will develop the condition if they inherit a mutated TAFAZZIN gene. Females, who have two X chromosomes, are typically carriers and usually do not show symptoms, as their second normal X chromosome can compensate. However, female carriers can pass the mutation on to their children.
Management focuses on addressing the primary symptoms. This includes medications and therapies to manage cardiomyopathy and prevent heart failure, antibiotics to treat and prevent recurrent infections, and nutritional support to combat muscle weakness and growth issues. Regular monitoring by a team of specialists, including cardiologists and immunologists, is crucial to manage the complex needs of individuals with Barth syndrome.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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