TAZ Antibody – Rabbit Polyclonal

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: Membrane protein, integral; Transferase; Mitochondrial

Chromosomal Location of Human Ortholog: Xq28

Cellular Component: mitochondrion; mitochondrial inner membrane; mitochondrial membrane; integral to membrane; intrinsic to membrane; cytosol; nucleus

Molecular Function: 1-acylglycerophosphocholine O-acyltransferase activity

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

Disease: Barth Syndrome