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Weak to moderate cytoplasmic positivity was observed the majority of malignancies. A few breast cancers were strongly stained. Most cases of malignant lymphomas, prostate, skin and renal cancers were negative.
GENE INFORMATION
Gene name
TAZ (HGNC Symbol)
Synonyms
BTHS, CMD3A, EFE, EFE2, G4.5, XAP-2
Description
Tafazzin (HGNC Symbol)
Entrez gene summary
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]