Tafazzin is a protein highly expressed in cardiac and skeletal muscle. It may be involved in the metabolism of cardiolipin.

Pathology

The mutation of the tafazzin gene is associated with a number of clinical disorders including Barth syndrome (type II 3-Methylglutaconic aciduria), dilated cardiomyopathy (DCM), hypertrophic DCM, endocardial fibroelastosis, and left ventricular noncompaction (LVNC).

History

The protein was identified by Italian scientists Silvia Bione et al. in 1996.^[1] Owing to the complex procedure required for the identification of tafazzin, the protein was named after "Tafazzi", a masochistic comic character in an Italian television sports show.

References

1. ^ Bione S, D'Adamo P, Maestrini E et al (1996). "A novel X-linked gene, G4.5. is responsible for Barth syndrome". Nat. Genet. 12 (4): 385-9. PMID 8630491.