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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 biosynth...

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Identifiers

PMID: 12930833
DOI: 10.1074/jbc.M305956200

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-12930833-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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