Tafazzin / TAZ Antibody

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.

TAZ, tafazzin (cardiomyopathy, dilated 3A (X-linked) endocardial fibroelastosis 2 Barth syndrome), HGNC:11577, BTHS, CMD3A, EFE, EFE2, G4.5, XAP-2, OTTHUMP00000061673, cardiomyopathy, dilated 3A (X-linked), tafazzin