Tafazzin

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

Additional recommended knowledge

Weighing the right way

Essential Laboratory Skills Guide

Daily Sensitivity Test

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.