Tafazzin, phospholipid-lysophospholipid transacylase (TAFAZZIN)

Tafazzin is a mitochondrial enzyme encoded by the *TAFAZZIN* gene, localized primarily to the inner mitochondrial membrane, where it acts as a phospholipid-lysophospholipid transacylase[1][3]. Its main role is remodeling immature cardiolipin into its mature form, critical for maintaining the mitochondrial membrane’s structure and facilitating optimal energy production. Mutations in TAFAZZIN are the cause of Barth syndrome, an X-linked disorder marked by cardiomyopathy, muscle weakness, neutropenia, and growth delay. Defective tafazzin disrupts cardiolipin metabolism, causing impaired mitochondrial function, particularly affecting tissues with high energy requirements such as the heart, skeletal muscle, and immune cells[1][4][6][7]. There are currently no approved drugs specifically targeting tafazzin or its enzymatic function. The principal biomarker for related disorders is the ratio of cardiolipin to monolysocardiolipin and the presence of pathogenic mutations in TAFAZZIN.\n\n**Note:**\nTAFAZZIN/TAZ is sometimes confused with a different protein, the transcriptional coactivator TAZ (WWTR1); these are entirely unrelated[1].

Other names

TafazzinEFE2G4.5TAZTazBTHSTAZ1Protein G4.5Barth syndromeCMD3AEFELVNCX

N/A (no direct modulators or drugs currently approved or routinely documented in clinical use against TAFAZZIN)