Species: Human
Specificity/Sensitivity: The peptide was used in the production of GTX89488.
Form: Lyophilized powder
Buffer (with preservative): Reconstitute with 200μl distilled water to obtain a 0.5mg/ml peptide solution. Lyophilized from 5% (v/v) acetonitrile/H₂O, no preservative.
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]
Region Sequence: C-HLKTQAEQLHNH
Full Name: tafazzin
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