| dbo:abstract |
Tafazzin is a protein that in humans is encoded by the TAFAZZIN gene. Tafazzin is highly expressed in cardiac and skeletal muscle, and functions as a phospholipid-lysophospholipid transacylase (it belongs to phospholipid:diacylglycerol acyltransferases). It catalyzes remodeling of immature cardiolipin to its mature composition containing a predominance of tetralinoleoyl moieties. Several different isoforms of the tafazzin protein are produced from the TAFAZZIN gene. 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. Most isoforms are found in all tissues, but some are found only in certain types of cells. Mutations in the TAFAZZIN gene have been associated with mitochondrial deficiency, Barth syndrome, dilated cardiomyopathy (DCM), hypertrophic DCM, endocardial fibroelastosis, left ventricular noncompaction (LVNC), breast cancer, papillary thyroid carcinoma, non-small cell lung cancer, glioma, gastric cancer, thyroid neoplasms, and rectal cancer. It is important to note that the TAZ gene was frequently confused with a protein called TAZ (transcriptional coactivator with PDZ-binding motif, a 50kDA protein). which is a part of the Hippo pathway and entirely unrelated to the gene of interest. The Hippo pathway TAZ protein has an official gene symbol of WWTR1. (en) La tafazzina è una proteina umana il cui gene TAZ è sito sul cromosoma Xq28, cioè sul braccio lungo del cromosoma X, locus 28. Si trova tra le paia di basi 153.293.070 e 153.303.258. È stata isolata nel 1996 dalla genetista e collaboratori, dopo un lungo e intenso lavoro. Per questo è stata battezzata, per auto-dileggio, col nome di "tafazzina", a ricordare la macchietta Tafazzi, simbolo del masochismo per la strenua volontà di trovarla da parte del gruppo dei ricercatori. (it) |
| rdfs:comment |
La tafazzina è una proteina umana il cui gene TAZ è sito sul cromosoma Xq28, cioè sul braccio lungo del cromosoma X, locus 28. Si trova tra le paia di basi 153.293.070 e 153.303.258. È stata isolata nel 1996 dalla genetista e collaboratori, dopo un lungo e intenso lavoro. Per questo è stata battezzata, per auto-dileggio, col nome di "tafazzina", a ricordare la macchietta Tafazzi, simbolo del masochismo per la strenua volontà di trovarla da parte del gruppo dei ricercatori. (it) Tafazzin is a protein that in humans is encoded by the TAFAZZIN gene. Tafazzin is highly expressed in cardiac and skeletal muscle, and functions as a phospholipid-lysophospholipid transacylase (it belongs to phospholipid:diacylglycerol acyltransferases). It catalyzes remodeling of immature cardiolipin to its mature composition containing a predominance of tetralinoleoyl moieties. Several different isoforms of the tafazzin protein are produced from the TAFAZZIN gene. 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. Most isofor (en) |
