TAZ Proteins

Protein Information

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, hypertrophic DCM, endocardial fibroelastosis, and left ventricular noncompaction. 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.

Synonyms

5031411C02Rik; 9130012G04Rik; AW107266; AW552613; Barth syndrome); BTHS; cardiomyopathy, dilated 3A (X-linked); CMD3A; EFE; EFE2; endocardial fibroelastosis 2; FLJ27390; G4.5; HGNC:11577; LVNCX; OTTHUMP00000061673; protein G4.5; Tafazzin; tafazzin (cardiomyopathy, dilated 3A (X-linked); tafazzin (cardiomyopathy, dilated 3A (X-linked); endocardial fibroelastosis 2; Barth syndrome); TAZ; Taz1; XAP-2; XX-FW83563B9.3