Wikidata

(Q14881093)

English

TAFAZZIN

protein-coding gene in the species Homo sapiens

  • BTHS
  • CMD3A
  • EFE
  • EFE2
  • G4.5
  • LVNCX
  • Taz1
  • tafazzin
  • TAZ
  • tafazzin, phospholipid-lysophospholipid transacylase
In more languages

Statements

genetic association
Barth syndrome
has effect
cause
determination method
case study
clinical trial
61 references
PubMed publication ID
8630491
stated in
A novel X-linked gene, G4.5. is responsible for Barth syndrome
PubMed publication ID
6142097
stated in
An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes
PubMed publication ID
8434619
stated in
Barth syndrome: clinical features and confirmation of gene localisation to distal Xq28.
PubMed publication ID
9382096
stated in
The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies.
PubMed publication ID
9332651
stated in
Xq28-linked noncompaction of the left ventricular myocardium: prenatal diagnosis and pathologic analysis of affected individuals
PubMed publication ID
9345098
stated in
Mutation characterization and genotype-phenotype correlation in Barth syndrome
PubMed publication ID
1719174
stated in
X-linked dilated cardiomyopathy with neutropenia, growth retardation, and 3-methylglutaconic aciduria
PubMed publication ID
10484795
stated in
Genetic analysis of the G4.5 gene in families with suspected Barth syndrome
PubMed publication ID
11118295
stated in
Defective remodeling of cardiolipin and phosphatidylglycerol in Barth syndrome
PubMed publication ID
11238270
stated in
Novel gene mutations in patients with left ventricular noncompaction or Barth syndrome
PubMed publication ID
11735032
stated in
A novel intronic mutation of the TAZ ( G4.5) gene in a patient with Barth syndrome: creation of a 5' splice donor site with variant GC consensus and elongation of the upstream exon
PubMed publication ID
11896212
stated in
Infantile dilated X-linked cardiomyopathy, G4.5 mutations, altered lipids, and ultrastructural malformations of mitochondria in heart, liver, and skeletal muscle
PubMed publication ID
12032589
stated in
Novel missense mutation (R94S) in the TAZ ( G4.5) gene in a Japanese patient with Barth syndrome.
PubMed publication ID
12410207
stated in
Cardiolipin deficiency in X-linked cardioskeletal myopathy and neutropenia (Barth syndrome, MIM 302060): a study in cultured skin fibroblasts
PubMed publication ID
12468278
stated in
Mutation analysis of the G4.5 gene in patients with isolated left ventricular noncompaction
PubMed publication ID
12529714
stated in
A novel mutation in the G4.5 (TAZ) gene in a kindred with Barth syndrome.
PubMed publication ID
14662265
stated in
Phospholipid abnormalities in children with Barth syndrome
PubMed publication ID
14764526
stated in
Neutrophils in Barth syndrome (BTHS) avidly bind annexin-V in the absence of apoptosis
PubMed publication ID
14764526
stated in
Neutrophils in Barth syndrome (BTHS) avidly bind annexin-V in the absence of apoptosis
PubMed publication ID
15793838
stated in
Barth syndrome: TAZ gene mutations, mRNAs, and evolution
PubMed publication ID
16548007
stated in
X-linked fetal cardiomyopathy caused by a novel mutation in the TAZ gene.
PubMed publication ID
16873891
stated in
Monolysocardiolipin in cultured fibroblasts is a sensitive and specific marker for Barth Syndrome
PubMed publication ID
16906470
stated in
Barth syndrome presenting with acute metabolic decompensation in the neonatal period
PubMed publication ID
17224687
stated in
Whole blood RNA offers a rapid, comprehensive approach to genetic diagnosis of cardiovascular diseases.
PubMed publication ID
17241629
stated in
Multiple transmissions of Barth syndrome through an oocyte donor with a de novo TAZ mutation
PubMed publication ID
17394203
stated in
Barth syndrome associated with compound hemizygosity and heterozygosity of the TAZ and LDB3 genes.
PubMed publication ID
18781126
stated in
Cardiomyopathy in a child with neutropenia and motor delay.
PubMed publication ID
18846664
stated in
Gene symbol: TAZ. Disease: Barth syndrome
PubMed publication ID
19037987
stated in
Cardiomyopathy of unknown etiology: Barth syndrome unrecognized
PubMed publication ID
19261493
stated in
A novel mutation in the G4.5 (TAZ) gene in a Greek patient with Barth syndrome
PubMed publication ID
19396829
stated in
A novel Alu-mediated Xq28 microdeletion ablates TAZ and partially deletes DNL1L in a patient with Barth syndrome
PubMed publication ID
19648820
stated in
Dysmorphology of Barth syndrome
PubMed publication ID
20303308
stated in
Gonadal mosaicism of a TAZ (G4.5) mutation in a Japanese family with Barth syndrome and left ventricular noncompaction
PubMed publication ID
20812380
stated in
Barth syndrome: an X-linked cause of fetal cardiomyopathy and stillbirth
PubMed publication ID
20981509
stated in
Barth syndrome: an X-linked cardiomyopathy with a novel mutation
PubMed publication ID
22410210
stated in
Barth syndrome in a female patient
PubMed publication ID
23031367
stated in
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
PubMed publication ID
23409742
stated in
New clinical and molecular insights on Barth syndrome
PubMed publication ID
23523468
stated in
Barth syndrome: cellular compensation of mitochondrial dysfunction and apoptosis inhibition due to changes in cardiolipin remodeling linked to tafazzin (TAZ) gene mutation
PubMed publication ID
23656970
stated in
Natural history of Barth syndrome: a national cohort study of 22 patients
PubMed publication ID
23678274
stated in
A novel mutation of the TAZ gene in Barth syndrome: acute exacerbation after contrast-dye injection.
PubMed publication ID
24093814
stated in
Novel mutations in the TAZ gene in patients with Barth syndrome
PubMed publication ID
24342716
stated in
Tafazzin splice variants and mutations in Barth syndrome.
PubMed publication ID
25112388
stated in
Barth syndrome without tetralinoleoyl cardiolipin deficiency: a possible ameliorated phenotype
PubMed publication ID
25776009
stated in
A novel TAZ gene mutation and mosaicism in a Polish family with Barth syndrome
PubMed publication ID
25782672
stated in
Intra-individual plasticity of the TAZ gene leading to different heritable mutations in siblings with Barth syndrome
PubMed publication ID
26724946
stated in
Atypical Clinical Presentations of TAZ Mutations: An Underdiagnosed Cause of Growth Retardation?
PubMed publication ID
26908608
stated in
Defining functional classes of Barth syndrome mutation in humans
PubMed publication ID
27124939
stated in
Prospective and Retrospective Diagnosis of Barth Syndrome Aided by Next-Generation Sequencing.
PubMed publication ID
27290639
stated in
New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre
PubMed publication ID
27358708
stated in
Identification of a Novel De Novo Mutation of the TAZ Gene in a Korean Patient with Barth Syndrome
PubMed publication ID
28108107
stated in
Barth Syndrome with Late-Onset Cardiomyopathy: A Missed Opportunity for Diagnosis
PubMed publication ID
28123175
stated in
A novel mutation in TAZ causes mitochondrial respiratory chain disorder without cardiomyopathy.
PubMed publication ID
28183324
stated in
Identification of TAZ mutations in pediatric patients with cardiomyopathy by targeted next-generation sequencing in a Chinese cohort.
PubMed publication ID
28289596
stated in
A novel intronic splice site tafazzin gene mutation detected prenatally in a family with Barth syndrome
PubMed publication ID
28498465
stated in
Identification of a novel hypertrophic cardiomyopathy-associated mutation using targeted next-generation sequencing
PubMed publication ID
28855170
stated in
A Wide and Specific Spectrum of Genetic Variants and Genotype-Phenotype Correlations Revealed by Next-Generation Sequencing in Patients with Left Ventricular Noncompaction
PubMed publication ID
29249525
stated in
Barth Syndrome: Different Approaches to Diagnosis.
PubMed publication ID
29476731
stated in
Metabolic causes of nonimmune hydrops fetalis: A next-generation sequencing panel as a first-line investigation.
PubMed publication ID
30122738
stated in
Clinical and Echocardiographic Impact of Tafazzin Variants on Dilated Cardiomyopathy Phenotype in Left Ventricular Non-Compaction Patients in Early Infancy
type of reference
review article
stated in
TAZ encodes tafazzin, a transacylase essential for cardiolipin formation and central to the etiology of Barth syndrome.

Identifiers

RefSeq RNA ID
Ensembl transcript ID
Freebase ID
/m/09ctdr
0 references
 
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