Anti-Tafazzin/TAZ Antibody Picoband® Fluoro488 Conjugated

Tafazzin?is a?protein?that in humans is encoded by the?TAFAZZIN?gene. 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.

High levels in cardiac and skeletal muscle. Up to 10 isoforms can be present in different amounts in different tissues. Most isoforms are ubiquitous. Isoforms that lack the N-terminus are found in leukocytes and fibroblasts, but not in heart and skeletal muscle. Some forms appear restricted to cardiac and skeletal muscle or to leukocytes.

Cancer, Cardiogenesis, Cardiovascular, Domain Families, Epigenetics and Nuclear Signaling, Oncoproteins, Oncoproteins/Suppressors, Transcription, Transcription Factors, Transcription Factors/Regulators

1. Acehan, D., Vaz, F., Houtkooper, R. H., James, J., Moore, V., Tokunaga, C., Kulik, W., Wansapura, J., Toth, M. J., Strauss, A., Khuchua, Z. Cardiac and skeletal muscle defects in a mouse model of human Barth syndrome. J. Biol. Chem. 286: 899-908, 2011. 2. Barth, P. G., Valianpour, F., Bowen, V. M., Lam, J., Duran, M., Vaz, F. M., Wanders, R. J. A. X-linked cardioskeletal myopathy and neutropenia (Barth syndrome) : an update. Am. J. Med. Genet. 126A: 349-354, 2004. 3. Claypool, S. M., McCaffery, J. M., Koehler, C. M. Mitochondrial mislocalization and altered assembly of a cluster of Barth syndrome mutant tafazzins. J. Cell Biol. 174: 379-390, 2006. 4. Hastings, R., Steward, C., Tsai-Goodman, B., Newbury-Ecob, R. Dysmorphology of Barth syndrome. Clin. Dysmorph. 18: 185-187, 2009.