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Tafazzin

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Definition

noun

A protein that is involved in the metabolism of cardiolipin, a glycerophospholipid localized in the inner mitochondrial membrane to maintainstructures, energy production andprotein transport within cells.

Supplement

Tafazzin gene is mapped on chromosome Xq28 containing 11 exons with several isoforms produced mostly in all tissues but some presents on certain types of cells. It alters fat cardiolipin in the inner mitochondria to addfatty acid calledlinoleic acid to the cardiolipin molecule which enable to perform its functions.

Tafazzin is highly used in tissues found in the heart and other muscles. It also affects white blood cell that has been abnormally shaped mitochondria which impairs ability to proliferate and differentiate resulted in weakenedimmune system and repeated infections.

Tafazzin gene mutation is implicated in Barth syndrome, a condition almost occurs exclusively in males characterized by enlarged and weakened heart, recurrent infections, muscle weakness and short stature in which Tafazzin protein is produced with little amount and has no function wherein linoleic acid is not added to the cardiolipin molecule which caused problem in mitochondrial shape, energy production and protein transport.

Gene name: TAZ

Protein name: Tafazzin

Synonyms:

G4.5

BTHS

XAP-2

• CMD3A

EFE

EFE2

Barth syndrome

Protein G4.5

Endocardial fibroelastosis 2

Cardiomyopathy, dilated 3A (X-linked)

See also:

Protein

Cardiolipin

Linoleic acid