# TAFAZZIN

> protein-coding gene in the species Homo sapiens

**Wikidata**: [Q14881093](https://www.wikidata.org/wiki/Q14881093)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Tafazzin)  
**Source**: https://4ort.xyz/entity/tafazzin


## References

1. ensembl Release 106
2. Q20641742
3. Online Mendelian Inheritance in Man
4. HomoloGene build68
5. [Orthologous MAtrix](https://omabrowser.org/oma/vps/Q16635/)
6. UniProt
7. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1629e6ab-9749-4949-bf54-fe1addf4dcfd-2021-02-12T170000.000Z)
8. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000102125/MONDO_0010543)
9. A novel X-linked gene, G4.5. is responsible for Barth syndrome
10. An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes
11. Barth syndrome: clinical features and confirmation of gene localisation to distal Xq28.
12. The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies.
13. Xq28-linked noncompaction of the left ventricular myocardium: Prenatal diagnosis and pathologic analysis of affected individuals
14. Mutation Characterization and Genotype-Phenotype Correlation in Barth Syndrome
15. X-linked dilated cardiomyopathy with neutropenia, growth retardation, and 3-methylglutaconic aciduria
16. Genetic analysis of the G4.5 gene in families with suspected Barth syndrome
17. Defective remodeling of cardiolipin and phosphatidylglycerol in Barth syndrome
18. Novel gene mutations in patients with left ventricular noncompaction or Barth syndrome
19. 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
20. Infantile dilated X-linked cardiomyopathy, G4.5 mutations, altered lipids, and ultrastructural malformations of mitochondria in heart, liver, and skeletal muscle
21. Novel missense mutation (R94S) in the TAZ ( G4.5) gene in a Japanese patient with Barth syndrome.
22. Cardiolipin deficiency in X-linked cardioskeletal myopathy and neutropenia (Barth syndrome, MIM 302060): a study in cultured skin fibroblasts
23. Mutation analysis of the G4.5 gene in patients with isolated left ventricular noncompaction
24. A novel mutation in the G4.5 (TAZ) gene in a kindred with Barth syndrome
25. Phospholipid abnormalities in children with Barth syndrome
26. Neutrophils in Barth syndrome (BTHS) avidly bind annexin-V in the absence of apoptosis
27. Barth syndrome: TAZ gene mutations, mRNAs, and evolution
28. X-linked fetal cardiomyopathy caused by a novel mutation in the TAZ gene
29. Monolysocardiolipin in cultured fibroblasts is a sensitive and specific marker for Barth Syndrome
30. Barth syndrome presenting with acute metabolic decompensation in the neonatal period
31. Whole blood RNA offers a rapid, comprehensive approach to genetic diagnosis of cardiovascular diseases
32. Multiple transmissions of Barth syndrome through an oocyte donor with a de novo TAZ mutation
33. Barth syndrome associated with compound hemizygosity and heterozygosity of the TAZ and LDB3 genes
34. Cardiomyopathy in a child with neutropenia and motor delay
35. Gene symbol: TAZ. Disease: Barth syndrome
36. Cardiomyopathy of unknown etiology: Barth syndrome unrecognized
37. A novel mutation in the G4.5 (TAZ) gene in a Greek patient with Barth syndrome
38. A novel Alu-mediated Xq28 microdeletion ablates TAZ and partially deletes DNL1L in a patient with Barth syndrome
39. Dysmorphology of Barth syndrome
40. Gonadal mosaicism of a TAZ (G4.5) mutation in a Japanese family with Barth syndrome and left ventricular noncompaction
41. Barth syndrome: an X-linked cause of fetal cardiomyopathy and stillbirth
42. Barth Syndrome: An X-linked Cardiomyopathy with a Novel Mutation
43. Barth syndrome in a female patient
44. 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
45. New clinical and molecular insights on Barth syndrome
46. Barth syndrome: cellular compensation of mitochondrial dysfunction and apoptosis inhibition due to changes in cardiolipin remodeling linked to tafazzin (TAZ) gene mutation
47. Natural history of Barth syndrome: a national cohort study of 22 patients
48. A novel mutation of the TAZ gene in Barth syndrome: acute exacerbation after contrast-dye injection.
49. Novel mutations in the TAZ gene in patients with Barth syndrome
50. Tafazzin splice variants and mutations in Barth syndrome.