Tafazzin
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| Tafazzin
| |
| Identifiers | |
| Symbol | TAZ |
| Entrez | 6901 |
| HUGO | 11577 |
| OMIM | 300394 |
| UniProt | Q16635 |
| Other data | |
| Locus | Chr. X q28 |
Tafazzin is a protein highly expressed in cardiac and skeletal muscle. It may be involved in the metabolism of cardiolipin.
Pathology
The mutation of the tafazzin gene is associated with a number of clinical disorders including Barth syndrome (type II 3-Methylglutaconic aciduria), dilated cardiomyopathy (DCM), hypertrophic DCM, endocardial fibroelastosis, and left ventricular noncompaction (LVNC).
History
The protein was identified by Italian scientists Silvia Bione et al. in 1996.[1] Owing to the complex procedure required for the identification of tafazzin, the protein was named after "Tafazzi", a masochistic comic character in an Italian television sports show.
References
External links
Acknowledgement and Attribution Regarding Sources of Content
Some of the initial content on this page may be incorporated in part from copyleft sources in the public domain including wikis such as Wikipedia and AskDrWiki. Drug information for patients came from the The National Library of Medicine. Infectious disease information may have come from the Centers for Disease Control (CDC). Differential Diagnoses are drawn from clinicians as well as an amalgamation of 3 sources: 1.The Disease Database; 2. Kahan, Scott, Smith, Ellen G. In A Page: Signs and Symptoms. Malden, Massachusetts: Blackwell Publishing, 2004:3; 3. Sailer, Christian, Wasner, Susanne. Differential Diagnosis Pocket. Hermosa Beach, CA: Borm Bruckmeir Publishing LLC, 2002:7 .
