TAZ

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.

3-methylglutaconic aciduria - caused by mutations in the TAZ gene

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

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.