Tafazzin

Tafazzin is a is_associated_with::protein that in humans is encoded by the TAZ is_associated_with::gene. Tafazzin is highly expressed in cardiac and is_associated_with::skeletal muscle. It is involved in the metabolism of is_associated_with::cardiolipin.

Tafazzin functions as a is_associated_with::phospholipid-is_associated_with::lysophospholipid is_associated_with::transacylase.

Pathology
The mutation of the tafazzin gene is associated with a number of clinical disorders including is_associated_with::Barth syndrome (BTHS) (type II is_associated_with::3-Methylglutaconic aciduria), dilated cardiomyopathy (DCM), hypertrophic DCM, endocardial fibroelastosis, and left ventricular noncompaction (LVNC). Tafazzin is responsible for remodeling of a phospholipid cardiolipin (CL), 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 is_associated_with::monolysocardiolipin (MLCL) and reduced total CL levels.

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