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

Gene: DNASE1L1

Alternate names for this Gene: DNAS1L1|DNASEX|DNL1L|G4.8|XIB

Gene Summary: This gene encodes a deoxyribonuclease protein that shows high sequence similarity to DNase I. The encoded protein is localized to the endoplasmic reticulum and modified by N-linked glycosylation. Alternate transcriptional splice variants encoding the same protein have been observed.

Gene is located in Chromosome: X

Location in Chromosome : Xq28

Description of this Gene: deoxyribonuclease 1 like 1

Type of Gene: protein-coding

rs104894937 in TAZ;DNASE1L1 gene and 3-Methylglutaconic aciduria type 2 PMID 11238270 2001 Novel gene mutations in patients with left ventricular noncompaction or Barth syndrome.

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

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

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 21300850 2011 Barth syndrome mutations that cause tafazzin complex lability.