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tafazzin
Tafazzin is a protein that in humans is encoded by the ''TAZ'' gene.〔(【引用サイトリンク】 url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6901 )〕 Tafazzin is highly expressed in cardiac and skeletal muscle. It is involved in the metabolism of cardiolipin.
Tafazzin functions as a phospholipid-lysophospholipid transacylase.
==Pathology==
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 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 monolysocardiolipin (MLCL) and reduced total CL levels.
抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』
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