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

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

rs1060500044 in DNASE1L1;TAZ gene and 3-Methylglutaconic aciduria type 2 PMID 12032589 2002 Novel missense mutation (R94S) in the TAZ ( G4.5) gene in a Japanese patient with Barth syndrome.

PMID 20812380 2010 Barth syndrome: an X-linked cause of fetal cardiomyopathy and stillbirth.

PMID 16548007 2006 X-linked fetal cardiomyopathy caused by a novel mutation in the TAZ gene.

PMID 23656970 2013 Natural history of Barth syndrome: a national cohort study of 22 patients.

PMID 9345098 1997 Mutation characterization and genotype-phenotype correlation in Barth syndrome.

PMID 28183324 2017 Identification of TAZ mutations in pediatric patients with cardiomyopathy by targeted next-generation sequencing in a Chinese cohort.

PMID 23409742 2013 New clinical and molecular insights on Barth syndrome.

PMID 16873891 2006 Monolysocardiolipin in cultured fibroblasts is a sensitive and specific marker for Barth Syndrome.

PMID 11238270 2001 Novel gene mutations in patients with left ventricular noncompaction or Barth syndrome.

PMID 21300850 2011 Barth syndrome mutations that cause tafazzin complex lability.

rs727504327 in DNASE1L1;TAZ gene and Cardiomyopathy, Dilated PMID 21300850 2011 Barth syndrome mutations that cause tafazzin complex lability.

PMID 11238270 2001 Novel gene mutations in patients with left ventricular noncompaction or Barth syndrome.