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Tafazzin
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| Identifiers | |
| Symbol | TAZ |
| Entrez | 6901 |
| HUGO | 11577 |
| 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.
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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 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)
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
- ^ 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. doi:. PMID 8630491.
External links
Wikipedia content modification information:
- This page was last modified on 28 May 2008, at 13:59.
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