- Catalog number
- A00933
- Size / count
- 100 µg/Vial
- Dry ice
- No
- Hazardous
- No
- Discontinued
- No
- Background
- 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.
- Synonyms
- Tafazzin; Protein G4.5; TAZ; EFE2, G4.5
- Gene Name
- TAZ
- Gene ID
- 6901
- UniProt
- Q16635
- Host
- Rabbit
- Reactivity
- Human
- Cross Reactivity
- No cross-reactivity with other proteins.
- Immunogen
- E.coli-derived human Tafazzin/TAZ recombinant protein (Position: M73-R292) .
- Clonality
- Polyclonal
- Tissue Specificity
- 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.
- Applications
- ELISA, IHC, WB
- Field of Research
- Cancer, Cardiogenesis, Cardiovascular, Domain Families, Epigenetics and Nuclear Signaling, Oncoproteins, Oncoproteins/Suppressors, Transcription, Transcription Factors, Transcription Factors/Regulators
- Purification
- Immunogen affinity purified.
- Concentration
- Adding 0.2 ml of distilled water will yield a concentration of 500 μg/ml.
- Form
- Lyophilized
- Reconstitution
- Add 0.2ml of distilled water will yield a concentration of 500ug/ml.
- Function
- Some isoforms may be involved in cardiolipin (CL) metabolism.
- References & Citations
- 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.
- Storage Conditions
- Store at -20°C for one year from date of receipt. After reconstitution, at 4°C for one month. It can also be aliquotted and stored frozen at -20°C for six months. Avoid repeated freeze-thaw cycles.
- Calculated Molecular Weight
- 33 kDa
- Observed Molecular Weight
- 33 kDa
- Specificity
- No cross reactivity with other proteins.
- Gene Name Synonym
- Tafazzin
- Subcellular Location
- Cytoplasm . Nucleus . Delocalizes from nucleus to cytoplasm when coexpressed with isoform Ets-1 p27. .
- Protein Name
- Protein C-ets-1
- Isotype
- Rabbit IgG
- Contents
- Each vial contains 4mg Trehalose, 0.9mg NaCl, 0.2mg Na2HPO4, 0.05mg NaN3.