Tafazzin
From Wikipedia, the free encyclopedia
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Tafazzin
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| Identifiers | |
| Symbol | TAZ |
| HUGO | 11577 |
| Entrez | 6901 |
| OMIM | 300394 |
| UniProt | Q16635 |
| Other data | |
| Locus | Chr. X q28 |
Tafazzin 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, dilated cardiomyopathy (DCM), hypertrophic DCM, endocardial fibroelastosis, and left ventricular noncompaction (LVNC).
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 "Tafazzi", a masochistic comic character in an Italian television sports show.
