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TAZ is 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.
Gene Name: | tafazzin |
Synonyms: | TAZ, BTHS, EFE, Endocardial fibroelastosis 2, EFE2, LVNCX, Protein G4.5, Tafazzin, CMD3A, G4.5, TAZ1, XAP-2 |
Target Sequences: | NM_000116 NP_000107.1 Q16635 |
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