Anti-Tafazzin/TAZ Antibody Picoband® fluoro594 Vervoeging

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.

Tafazzin; Protein G4.5; TAZ; EFE2, G4.5

TAZ

6901

Q16635

Mouse, Rat

No cross-reactivity with other proteins

A synthetic peptide corresponding to a sequence in the middle region of human Tafazzin, identical to the related mouse and rat sequences.

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.

Flow Cytometry

Stem Cells, Transcription

Immunogen affinity purified.

Liquid

Some isoforms may be involved in cardiolipin (CL) metabolism. .

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.

At -20 ̊C for one year from date of receipt. Avoid repeated freezing and thawing. Protect from light.

33 kDa

No cross reactivity with other proteins.

6

Tafazzin

Isoform 1: Membrane; Single-pass membrane protein.

Belongs to the taffazin family.

Tafazzin

Rabbit IgG

Each vial contains 50% glycerol, 0.9% NaCl, 0.2% Na2HPO4, 0.02% NaN3.