Property Summary

NCBI Gene PubMed Count 54
PubMed Score 361.53
PubTator Score 282.58

Knowledge Summary


No data available


  Differential Expression (1)

Disease log2 FC p
osteosarcoma -1.627 0.000


Accession Q16635 A3KQT2 D3DWX2 Q5HY43 Q5HY44 Q5HY45 Q5HY48 Q86XQ6 Q86XQ7 Q86XQ8 Q86XQ9 Q86XR0
Symbols EFE



PANTHER Protein Class (2)

  Ortholog (12)

Species Source
Macaque OMA Inparanoid
Mouse OMA Inparanoid
Rat OMA Inparanoid
Dog OMA Inparanoid
Horse OMA Inparanoid
Cow OMA Inparanoid
Platypus OMA Inparanoid
Anole lizard OMA Inparanoid
Xenopus OMA Inparanoid
Zebrafish OMA Inparanoid
C. elegans OMA Inparanoid
Fruitfly OMA Inparanoid

 OMIM Term (1)

Gene RIF (23)

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.

AA Sequence

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.