acl-3

Caenorhabditis elegans

Predicted to enable 1-acylglycerophosphocholine O-acyltransferase activity. Predicted to be involved in cardiolipin acyl-chain remodeling and inner mitochondrial membrane organization. Predicted to be located in mitochondrial membrane. Human ortholog(s) of this gene implicated in Barth syndrome and dilated cardiomyopathy. Is an ortholog of human TAFAZZIN (tafazzin, phospholipid-lysophospholipid transacylase).

Pnma6e

Rattus norvegicus

ASSOCIATED WITH adrenoleukodystrophy (ortholog); autistic disorder (ortholog); Barth syndrome (ortholog); INTERACTS WITH aflatoxin B1 (ortholog)

iPLA2-VIA

Drosophila melanogaster

calcium-independent phospholipase A2 VIA (iPLA2-VIA) encodes a protein that localizes to cytosol and mitochondria involved in repairing oxidized mitochondrial lipids, such as cardiolipin, and thus preventing cytochrome c release. It is partially responsible for cardiolipin depletion and monolysocardiolipin accumulation in Taz-deficient flies, which is a model of Barth syndrome.

TAZ1

Saccharomyces cerevisiae

Lyso-phosphatidylcholine acyltransferase; required for normal phospholipid content of mitochondrial membranes; major determinant of the final acyl chain composition of the mitochondrial-specific phospholipid cardiolipin; mutations in human ortholog tafazzin (TAZ) cause Barth syndrome, a rare X-linked disease characterized by skeletal and cardiomyopathy and bouts of cyclic neutropenia; a specific splice variant of human TAZ can complement yeast null mutant

Tafazzin

Rattus norvegicus

Predicted to enable 1-acylglycerophosphocholine O-acyltransferase activity. Involved in positive regulation of ATP biosynthetic process and positive regulation of cardiolipin metabolic process. Predicted to be located in mitochondrial inner membrane and mitochondrial outer membrane. Predicted to be active in mitochondrial membrane. Human ortholog(s) of this gene implicated in Barth syndrome and dilated cardiomyopathy. Orthologous to human TAFAZZIN (tafazzin, phospholipid-lysophospholipid transacylase); PARTICIPATES IN cardiolipin metabolic pathway; glycerophospholipid metabolic pathway; INTERACTS WITH (+)-schisandrin B; 2,2',4,4'-Tetrabromodiphenyl ether; 2,3,7,8-tetrachlorodibenzodioxine.

Tafazzin

Homo sapiens

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]