Aliases for TAZ Gene
External Ids for TAZ Gene
Previous Symbols for TAZ Gene
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]
GeneCards Summary for TAZ Gene
TAZ (Tafazzin) is a Protein Coding gene. Diseases associated with TAZ include endocardial fibroelastosis and barth syndrome. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include 1-acylglycerophosphocholine O-acyltransferase activity.
UniProtKB/Swiss-Prot for TAZ Gene
Some isoforms may be involved in cardiolipin (CL) metabolism.