Property Summary

NCBI Gene PubMed Count 54
PubMed Score 361.53
PubTator Score 282.58

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (1)

Disease log2 FC p
osteosarcoma -1.627 1.5e-06

 OMIM Phenotype (1)

Gene RIF (23)

PMID Text
26164234 ability of CL-ND to elicit a physiological response was examined in an HL60 cell culture model of Barth Syndrome neutropenia. siRNA knockdown of the phospholipid transacylase, tafazzin (TAZ), induced apoptosis in these cells
25919711 Tafazzin deficiency in mouse embryonic fibroblasts also led to impaired oxidative phosphorylation and severe oxidative stress
25782672 two novel and non-identical TAZ gene rearrangements were found in the offspring of a single female carrier of Barth syndrome.
25776009 novel mutation in exon 1 of the TAZ gene and female mosaicism in three generations of a Polish family with Barth syndrome
25247053 mitochondria-targeted antioxidant prevents cardiac dysfunction induced by tafazzin gene knockdown in cardiac myocytes
24858921 Strong expression of TAZ protein seems to be related to rectal cancer development and RT response, it can be a predictive biomarker of distant recurrence in patients with preoperative RT.
24342716 Results show that in both healthy controls and in Barth syndrome patients, a greater variety of alternatively spliced forms than previously described was found. It includes a sizeable proportion of minor splice variants besides the four dominant isoforms.
24093814 Three novel hemizygous mutations in the TAZ gene were found (c.584G>T; c.109+6T>C; c.86G>A). We conclude that Barth syndrome should be included in differential diagnosis of cardiomyopathy in childhood.
23523468 Basal levels of superoxide anion production were slightly higher in patients' cells than in control cells as previously evidenced via an increased protein carbonylation in the taz1Delta mutant in the yeast.
23432031 The underlying molecular defects in Barth syndrome are truncation, deletion or substitution mutations in the TAZ gene, resulting in loss-of-function of tafazzin. Review.
23409742 study reports five new TAZ gene mutations in six unrelated Barth Syndrome patients, including two new gross gene rearrangements
23359024 data suggest that genes other than G4.5 are responsible for the familial form of noncompaction of the ventricular myocardium
23345479 The identification of TAZ mutation has major impact on their medical care as the surveillance needs to be expanded to cover for the Barth syndrome, a severe metabolic phenotype also caused by TAZ mutation, in addition to DCM.
23200781 Tafazzin activity is critical for the differentiation of cardiomyocytes. (Review)
23031367 A novel, hemizygous nonsense mutation in TAZ exon 7 (c.583G>T, p.Gly195X) was detected in an infant with Barth syndrome with dilated cardiomyopathy and heart failure and in his great-uncle with left ventricular noncompaction.
20474083 Observational study of genetic testing. (HuGE Navigator)
19700766 the characteristic fatty acid profile of cardiolipin is not determined by the substrate specificity of tafazzin
19261493 A 5.5-month old boy with Barth's syndrome phenotype had a novel missense T43P mutation in exon 2 of the TAZ gene. His mother was heterozygous for this mutation.
18799610 Data show that the tafazzin 1 interactome defined here provides novel insight into the variable respiratory defects and morphological abnormalities observed in mitochondria of BTHS patients.
15499385 Motif, critical for the glycerolphosphate acyltransferase family, was observed in human tafazzin. The presence of a mutation in this region in Barth syndrome patients indicates that this motif is essential for tafazzin function.
15304507 human TAZ has a role in mitochondrial dysfunction in Barth syndrome
12930833 one splice variant of TAZ most likely represents the only physiologically important mRNA, at least with regard to cardiolipin metabolism
11896212 Mutations in the Xq28 gene G4.5 lead to dilated cardiomyopathy associated with ultrastructural changes in mitochodria of heart, liver and skeletal muscle.

AA Sequence

MPLHVKWPFPAVPPLTWTLASSVVMGLVGTYSCFWTKYMNHLTVHNREVLYELIEKRGPATPLITVSNHQ      1 - 70
SCMDDPHLWGILKLRHIWNLKLMRWTPAAADICFTKELHSHFFSLGKCVPVCRGAEFFQAENEGKGVLDT     71 - 140
GRHMPGAGKRREKGDGVYQKGMDFILEKLNHGDWVHIFPEGKVNMSSEFLRFKWGIGRLIAECHLNPIIL    141 - 210
PLWHVGMNDVLPNSPPYFPRFGQKITVLIGKPFSALPVLERLRAENKSAVEMRKALTDFIQEEFQHLKTQ    211 - 280
AEQLHNHLQPGR                                                              281 - 292
//

Text Mined References (55)

PMID Year Title
26871637 2016 Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.
26164234 2015 Exogenous cardiolipin localizes to mitochondria and prevents TAZ knockdown-induced apoptosis in myeloid progenitor cells.
25919711 2015 Cardiolipin remodeling by TAZ/tafazzin is selectively required for the initiation of mitophagy.
25782672 2015 Intra-individual plasticity of the TAZ gene leading to different heritable mutations in siblings with Barth syndrome.
25776009 2015 A novel TAZ gene mutation and mosaicism in a Polish family with Barth syndrome.
25247053 2014 Mitochondria-targeted antioxidant prevents cardiac dysfunction induced by tafazzin gene knockdown in cardiac myocytes.
24858921 2014 Tafazzin protein expression is associated with tumorigenesis and radiation response in rectal cancer: a study of Swedish clinical trial on preoperative radiotherapy.
24342716 2014 Tafazzin splice variants and mutations in Barth syndrome.
24093814 2013 Novel mutations in the TAZ gene in patients with Barth syndrome.
23523468 2013 Barth syndrome: cellular compensation of mitochondrial dysfunction and apoptosis inhibition due to changes in cardiolipin remodeling linked to tafazzin (TAZ) gene mutation.
23432031 2013 Advances in the understanding of Barth syndrome.
23409742 2013 New clinical and molecular insights on Barth syndrome.
23359024 2013 Lack of mutations of G4.5 in three families from China with noncompaction of the ventricular myocardium.
23345479 2013 NGS identifies TAZ mutation in a family with X-linked dilated cardiomyopathy.
23200781 2013 Cardiolipin remodeling and the function of tafazzin.
23031367 2012 Intrafamilial variability for novel TAZ gene mutation: Barth syndrome with dilated cardiomyopathy and heart failure in an infant and left ventricular noncompaction in his great-uncle.
20474083 2010 A novel custom resequencing array for dilated cardiomyopathy.
19700766 2009 Characterization of tafazzin splice variants from humans and fruit flies.
19619503 2009 The enigmatic role of tafazzin in cardiolipin metabolism.
19261493 A novel mutation in the G4.5 (TAZ) gene in a Greek patient with Barth syndrome.
19164547 2009 Role of calcium-independent phospholipase A2 in the pathogenesis of Barth syndrome.
18799610 2008 The cardiolipin transacylase, tafazzin, associates with two distinct respiratory components providing insight into Barth syndrome.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17043667 2007 Comparison of lymphoblast mitochondria from normal subjects and patients with Barth syndrome using electron microscopic tomography.
16873891 2006 Monolysocardiolipin in cultured fibroblasts is a sensitive and specific marker for Barth Syndrome.
16857210 2006 Mitochondrial respiratory chain supercomplexes are destabilized in Barth Syndrome patients.
16381901 2006 The LIFEdb database in 2006.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
16020776 2005 The extent of linkage disequilibrium caused by selection on G6PD in humans.
15793838 2005 Barth syndrome: TAZ gene mutations, mRNAs, and evolution.
15772651 2005 The DNA sequence of the human X chromosome.
15499385 2004 Complex expression pattern of the Barth syndrome gene product tafazzin in human cell lines and murine tissues.
15489336 2004 From ORFeome to biology: a functional genomics pipeline.
15304507 2004 The human TAZ gene complements mitochondrial dysfunction in the yeast taz1Delta mutant. Implications for Barth syndrome.
15098233 2004 X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): an update.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12930833 2003 Only one splice variant of the human TAZ gene encodes a functional protein with a role in cardiolipin metabolism.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12032589 2002 Novel missense mutation (R94S) in the TAZ ( G4.5) gene in a Japanese patient with Barth syndrome.
11896212 2002 Infantile dilated X-linked cardiomyopathy, G4.5 mutations, altered lipids, and ultrastructural malformations of mitochondria in heart, liver, and skeletal muscle.
11238270 2001 Novel gene mutations in patients with left ventricular noncompaction or Barth syndrome.
11118295 2000 Defective remodeling of cardiolipin and phosphatidylglycerol in Barth syndrome.
11076863 2000 DNA cloning using in vitro site-specific recombination.
10484795 1999 Genetic analysis of the G4.5 gene in families with suspected Barth syndrome.
10407787 1999 X-linked cardioskeletal myopathy and neutropenia (Barth syndrome) (MIM 302060).
9382097 1997 Neonatal, lethal noncompaction of the left ventricular myocardium is allelic with Barth syndrome.
9382096 1997 The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies.
9332651 1997 Xq28-linked noncompaction of the left ventricular myocardium: prenatal diagnosis and pathologic analysis of affected individuals.
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.
8630491 1996 A novel X-linked gene, G4.5. is responsible for Barth syndrome.
8281148 1993 Construction of a transcription map of a 300 kb region around the human G6PD locus by direct cDNA selection.
8248200 1993 Transcriptional organization of a 450-kb region of the human X chromosome in Xq28.
8042670 1994 Barth syndrome: clinical observations and genetic linkage studies.
7616547 1995 X linked fatal infantile cardiomyopathy maps to Xq28 and is possibly allelic to Barth syndrome.
5455540 1970 Familial occurrence of the contracted form of endocardial fibroelastosis.