Tafazzin

Tafazzin
Identifiers
Symbols	TAZ ; BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; Taz1
External IDs	OMIM: 300394 MGI: 109626 HomoloGene: 37264 GeneCards: TAZ Gene
EC number	2.3.1.23
Gene ontology Molecular function • 1-acylglycerophosphocholine O-acyltransferase activity Cellular component • nucleus • mitochondrion • mitochondrial inner membrane • cytosol • integral component of membrane • intrinsic component of membrane • mitochondrial membrane Biological process • phospholipid metabolic process • muscle contraction • heart development • skeletal muscle tissue development • hemopoiesis • cardiolipin biosynthetic process • mitochondrial respiratory chain complex I assembly • cardiolipin acyl-chain remodeling • cristae formation • mitochondrial ATP synthesis coupled electron transport • small molecule metabolic process • glycerophospholipid biosynthetic process • cardiac muscle tissue development • cardiac muscle contraction Sources: Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	6901	66826
Ensembl	ENSG00000102125	ENSMUSG00000009995
UniProt	Q16635	I7HJS2
RefSeq (mRNA)	NM_000116	NM_001173547
RefSeq (protein)	NP_000107	NP_001167018
Location (UCSC)	Chr X: 154.41 – 154.42 Mb	Chr X: 74.28 – 74.29 Mb
PubMed search	[1]	[2]

Tafazzin is a protein that in humans is encoded by the TAZ gene. Tafazzin is highly expressed in cardiac and skeletal muscle. It is involved in the metabolism of cardiolipin.

Tafazzin functions as a phospholipid-lysophospholipid transacylase.

Pathology

The mutation of the tafazzin gene is associated with a number of clinical disorders including Barth syndrome (BTHS) (type II 3-Methylglutaconic aciduria), dilated cardiomyopathy (DCM), hypertrophic DCM, endocardial fibroelastosis, and left ventricular noncompaction (LVNC). Tafazzin is responsible for remodeling of a phospholipid cardiolipin (CL), the signature lipid of the mitochondrial inner membrane. As a result, BTHS patients exhibit defects in CL metabolism, including aberrant CL fatty acyl composition, accumulation of monolysocardiolipin (MLCL) and reduced total CL levels.

History

The protein was identified by Italian scientists Silvia Bione et al. in 1996. Owing to the complex procedure required for the identification of tafazzin, the protein was named after "Tafazzi", a masochistic comic character in an Italian television show.

External links

• GeneReviews/NCBI/NIH/UW entry on Dilated Cardiomyopathy Overview
• TAZ protein, human at the US National Library of Medicine Medical Subject Headings (MeSH)