Tafazzin
Encyclopedia
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 is a component of the hippo signaling pathway
that controls tissue growth in animals. It functions as a phospholipid
-lysophospholipid transacylase.
), 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.
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.
Protein
Proteins are biochemical compounds consisting of one or more polypeptides typically folded into a globular or fibrous form, facilitating a biological function. A polypeptide is a single linear polymer chain of amino acids bonded together by peptide bonds between the carboxyl and amino groups of...
that in humans is encoded by the TAZ gene
Gene
A gene is a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a type of protein or for an RNA chain that has a function in the organism. Living beings depend on genes, as they specify all proteins and functional RNA chains...
. Tafazzin is highly expressed in cardiac
Cardiac muscle
Cardiac muscle is a type of involuntary striated muscle found in the walls and histologic foundation of the heart, specifically the myocardium. Cardiac muscle is one of three major types of muscle, the others being skeletal and smooth muscle...
and skeletal muscle
Skeletal muscle
Skeletal muscle is a form of striated muscle tissue existing under control of the somatic nervous system- i.e. it is voluntarily controlled. It is one of three major muscle types, the others being cardiac and smooth muscle...
. It is involved in the metabolism of cardiolipin
Cardiolipin
Cardiolipin is an important component of the inner mitochondrial membrane, where it constitutes about 20% of the total lipid composition. The only other place that cardiolipin can be found is in the membranes of most bacteria. The name ‘cardiolipin’ is derived from the fact that it was first...
.
Tafazzin is a component of the hippo signaling pathway
Hippo signaling pathway
The Hippo signaling pathway, also known as the Salvador/Warts/Hippo pathway, controls organ size in animals through the regulation of cell proliferation and apoptosis. The pathway takes its name from one of its key signaling components—the protein kinase Hippo...
that controls tissue growth in animals. It functions as a phospholipid
Phospholipid
Phospholipids are a class of lipids that are a major component of all cell membranes as they can form lipid bilayers. Most phospholipids contain a diglyceride, a phosphate group, and a simple organic molecule such as choline; one exception to this rule is sphingomyelin, which is derived from...
-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 aciduria3-methylglutaconic aciduria
3-Methylglutaconic aciduria is used to describe at least five different disorders that impair the body's ability to make energy in the mitochondria. As a result of this impairment, 3-methylglutaconic acid and 3-methylglutaric acid build up and can be detected in the urine.3-Methylglutaconic acid...
), dilated cardiomyopathy (DCM)
Dilated cardiomyopathy
Dilated cardiomyopathy or DCM is a condition in which the heart becomes weakened and enlarged and cannot pump blood efficiently. The decreased heart function can affect the lungs, liver, and other body systems....
, 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 ItalianItaly
Italy , officially the Italian Republic languages]] under the European Charter for Regional or Minority Languages. In each of these, Italy's official name is as follows:;;;;;;;;), is a unitary parliamentary republic in South-Central Europe. To the north it borders France, Switzerland, Austria and...
scientists Silvia Bione et al. in 1996. Owing to the complex procedure required for the identification of tafazzin, the protein was named after "Tafazzi
Tafazzi
Tafazzi is a comic character created by Carlo Turati and portrayed by Giacomo Poretti, member of the group "Aldo, Giovanni e Giacomo". It originally appeared in Mai dire Gol, a comic-sports television show by the Gialappa's Band, but later appeared in other works of Aldo, Giovanni e Giacomo,...
", a masochistic comic character in an Italian television show.