Tafazzin Polyclonal Antibody, APC-Cy7 Conjugated

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.

Barth syndrome; Cardiomyopathy dilated 3A X linked; EFE2; Endocardial fibroelastosis 2; Protein G4.5; Tafazzin; TAZ; TAZ protein; TAZ protein; TAZ_HUMAN.