InterPro: IPR000872 Tafazzin

Tafazzins [1] are expressed at high levels in cardiac and skeletal muscle. As many as 10 isoforms can be present in different amounts in different tissues. Isoforms with hydrophobic N-termini are thought to be membrane anchored, while shorter forms, lacking the hydrophobic stretch, may be cytoplasmic (these latter are found in leukocytes and fibroblasts, but not in heart and skeletal muscle). A central hydrophilic domain may serve as an exposed loop that interacts with other proteins. Defects in taz are the cause of Barth syndrome, a severe inherited disorder, often fatal in childhood. The disease is characterised by cardiac and skeletal myopathy, short stature and neutropenia [1].