Aliases for TAZ Gene
External Ids for TAZ Gene
Previous HGNC Symbols for TAZ Gene
Previous GeneCards Identifiers 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 Barth Syndrome and Familial Isolated Dilated Cardiomyopathy. Among its related pathways are Glycerophospholipid biosynthesis and Metabolism. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring acyl groups and 1-acylglycerophosphocholine O-acyltransferase activity.
UniProtKB/Swiss-Prot for TAZ Gene
Some isoforms may be involved in cardiolipin (CL) metabolism.