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Tafazzin Polyclonal Antibody, 100μg, (ATB-T4532)

$199.00
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Background: 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. [provided by RefSeq, Jul 2008]Product datasheet: Overview Product Description Tafazzin Polyclonal Antibody, 100μg, (ATB-T4532) Image Species Reactivities Human Immunogen Synthesized peptide derived from the Internal region of human Tafazzin. Properties Form Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide. Storage Instructions-20°C/1 year References: Barth Syndrome Ferreira C, et al. , 1993. PMID 25299040 Tafazzin splice variants and mutations in Barth syndrome. Kirwin SM, et al. Mol Genet Metab, 2014 Jan. PMID 24342716 Novel mutations in the TAZ gene in patients with Barth syndrome. Mazurová S, et al. Prague Med Rep, 2013. PMID 24093814 Barth syndrome: cellular compensation of mitochondrial dysfunction and apoptosis inhibition due to changes in cardiolipin remodeling linked to tafazzin (TAZ) gene mutation. Gonzalvez F, et al. Biochim Biophys Acta, 2013 Aug. PMID 23523468 New clinical and molecular insights on Barth syndrome. Ferri L, et al. Orphanet J Rare Dis, 2013 Feb 14. PMID 23409742 Free PMC Article

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Tafazzin Polyclonal Antibody, 100μg, (ATB-T4532)
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