Tafazzin 抗体 (JK-2): sc-100870

Tafazzin protein is a single-pass membrane protein that is abundant in cardiac and skeletal muscle, where it influences mitochondrial structure. There are various isoforms associated with Tafazzin, most of which are ubiquitous. Isoforms with hydrophobic N-terminal domains are membrane anchored, whereas the short isoforms that lack a hydrophobic leader sequence may exist as cytoplasmic proteins. The isoforms that lack the N-terminal domain are not found in cardiac or skeletal muscle, rather they are located in fibro-blasts and leukocytes. Mutations in the Tafazzin gene are associated with various diseases, including dilated cardiomyopathy (DCM), hypertrophic DCM, endocardial fibroelastosis, left ventricular noncompaction (LVNC) and Barth syndrome (BTHS), a severe inherited disorder marked by neutropenia, cardiac and skeletal myopathy and short stature.