Article
Only one splice variant of the human TAZ gene encodes a functional protein with a role in cardiolipin metabolism.
The Journal of biological chemistry - 31 Oct 2003
Vaz Frédéric M, Houtkooper Riekelt H, Valianpour Fredoen, Barth Peter G, Wanders Ronald J A
Abstract excerpt
Barth syndrome (BTHS) is an X-linked recessive disorder caused by mutations in the TAZ gene and is characterized by cardiomyopathy, short stature, neutropenia, and 3-methylglutaconic aciduria. Recently it was found that BTHS patients exhibit a profound cardiolipin deficiency although the biosynthetic capacity to synthesize this lipid from its precursor phosphatidylglycerol is entirely normal. Like BTHS patients,...
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