Tafazzin

protein
Name = Tafazzin
caption =


width =
HGNCid = 11577
Symbol = TAZ
AltSymbols =
EntrezGene = 6901
OMIM = 300394
RefSeq =
UniProt = Q16635
PDB =
ECnumber =
Chromosome = X
Arm = q
Band = 28
LocusSupplementaryData =

Tafazzin is a protein highly expressed in cardiac and skeletal muscle. It may be involved in the metabolism of cardiolipin.

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. [cite journal |author=Bione S, D'Adamo P, Maestrini E et al |title=A novel X-linked gene, G4.5. is responsible for Barth syndrome |journal=Nat. Genet. |volume=12 |issue=4 |pages=385–9 |year=1996 |pmid=8630491 |doi=10.1038/ng0496-385] 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

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