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