TAZ Antibody (N-Term) Blocking Peptide

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]

tafazzin: Some isoforms may be involved in cardiolipin (CL) metabolism. Defects in TAZ are the cause of Barth syndrome (BTHS). An X-linked disease characterized by dilated cardiomyopathy with endocardial fibroelastosis, a predominantly proximal skeletal myopathy, growth retardation, neutropenia, and organic aciduria, particularly excess of 3-methylglutaconic acid. Additional features include hypertrophic cardiomyopathy, isolated left ventricular non-compaction, ventricular arrhythmia, motor delay, poor appetite, fatigue and exercise intolerance, hypoglycemia, lactic acidosis, hyperammonemia, and dramatic late catch-up growth after growth delay throughout childhood. Belongs to the taffazin family. 9 isoforms of the human protein are produced by alternative splicing.

Protein type: Transferase; Membrane protein, integral; Mitochondrial

Chromosomal Location of Human Ortholog: Xq28

Cellular Component: intrinsic to membrane; mitochondrial inner membrane; mitochondrial membrane; mitochondrion

Molecular Function: 1-acylglycerol-3-phosphate O-acyltransferase activity; 1-acylglycerophosphocholine O-acyltransferase activity; O-acyltransferase activity

Biological Process: cardiac muscle contraction; cardiac muscle development; cardiolipin biosynthetic process; cristae formation; heart development; hemopoiesis; mitochondrial respiratory chain complex I assembly; muscle contraction; organelle ATP synthesis coupled electron transport; skeletal muscle development

Disease: Barth Syndrome