is a protein
highly expressed in cardiac
and skeletal muscle
. It may be involved in the metabolism of cardiolipin
The mutation of the tafazzin gene is associated with a number of clinical disorders including Barth syndrome (BTHS)
(type II 3-Methylglutaconic aciduria
), dilated cardiomyopathy (DCM)
, hypertrophic DCM, endocardial fibroelastosis, and left ventricular noncompaction (LVNC). Tafazzin is a phospholipid cardiolipin (CL) (Neuwald, 1997), the signature lipid of the mitochondrial inner membrane. As a result, BTHS patients exhibit defects in CL metabolism, including aberrant CL fatty acyl composition, accumulation of monolysocardiolipin (MLCL) and reduced total CL levels (Vreken et al., 2000; Valianpour et al., 2005)
The protein was identified by Italian
scientists Silvia Bione et al.
. 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.