Gene: TAZ

Alternate names for this Gene: BTHS|CMD3A|EFE|EFE2|G4.5|LVNCX|Taz1

Gene Summary: This gene encodes a protein that is expressed at high levels in cardiac and skeletal muscle. Mutations in this gene have been associated with a number of clinical disorders including Barth syndrome, dilated cardiomyopathy (DCM), hypertrophic DCM, endocardial fibroelastosis, and left ventricular noncompaction (LVNC). Multiple transcript variants encoding different isoforms have been described. A long form and a short form of each of these isoforms is produced; the short form lacks a hydrophobic leader sequence and may exist as a cytoplasmic protein rather than being membrane-bound. Other alternatively spliced transcripts have been described but the full-length nature of all these transcripts is not known.

Gene is located in Chromosome: X

Location in Chromosome : Xq28

Description of this Gene: tafazzin

Type of Gene: protein-coding

rs1085307797 in TAZ gene and 3-Methylglutaconic aciduria type 2 PMID 24887148 2014 Cardiomyopathy in a male patient with neutropenia and growth delay.

PMID 23656970 2013 Natural history of Barth syndrome: a national cohort study of 22 patients.

PMID 9382096 1997 The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies.

PMID 16880272 2006 Mitochondrial mislocalization and altered assembly of a cluster of Barth syndrome mutant tafazzins.

PMID 23361305 2013 Left ventricular noncompaction (LVNC) and low mitochondrial membrane potential are specific for Barth syndrome.

PMID 9382097 1997 Neonatal, lethal noncompaction of the left ventricular myocardium is allelic with Barth syndrome.

PMID 12032589 2002 Novel missense mutation (R94S) in the TAZ ( G4.5) gene in a Japanese patient with Barth syndrome.

PMID 11238270 2001 Novel gene mutations in patients with left ventricular noncompaction or Barth syndrome.

PMID 29077208 2018 Clinical efficacy of a next-generation sequencing gene panel for primary immunodeficiency diagnostics.

PMID 9345098 1997 Mutation characterization and genotype-phenotype correlation in Barth syndrome.

PMID 1719174 1991 X-linked dilated cardiomyopathy with neutropenia, growth retardation, and 3-methylglutaconic aciduria.

rs387907218 in TAZ gene and Cardiomyopathy, Dilated PMID 11896212 2002 Infantile dilated X-linked cardiomyopathy, G4.5 mutations, altered lipids, and ultrastructural malformations of mitochondria in heart, liver, and skeletal muscle.

PMID 4685904 1973 Two cases of endocardial fibroelastosis--possible x-linked determination.

PMID 12468278 2002 Mutation analysis of the G4.5 gene in patients with isolated left ventricular noncompaction.

PMID 9382096 1997 The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies.