TAZ
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]
Function
Acyltransferase required to remodel newly synthesized phospholipid cardiolipin (1',3'-bis-[1,2-diacyl-sn-glycero-3-phospho]-glycerol or CL), a key component of the mitochondrial inner membrane, with tissue specific acyl chains necessary for adequate mitochondrial function (PubMed:12930833, PubMed:19700766, PubMed:19164547, PubMed:26908608, PubMed:33096711).
Its role in cellular physiology is to improve mitochondrial performance (PubMed:32234310).
CL is critical for the coassembly of lipids and proteins in mitochondrial membranes, for instance, remodeling of the acyl groups of CL in the mitochondrial inner membrane affects the assembly and stability of respiratory chain complex IV and its supercomplex forms (By similarity).
Catalyzes the transacylacion between phospholipids and lysophospholipids, with the highest rate being between phosphatidylcholine (1,2-diacyl-sn-glycero-3-phosphocholine or PC) and CL. Catalyzes both 1-acyl-sn-glycero-3-phosphocholine (lysophosphatidylcholine or LPC) reacylation and PC-CL transacylation, that means, it exchanges acyl groups between CL and PC by a combination of forward and reverse transacylations. Also catalyzes transacylations between other phospholipids such as phosphatidylethanolamine (1,2-diacyl-sn-glycero-3-phosphoethanolamine or PE) and CL, between PC and PE, and between PC and phosphatidate (1,2-diacyl-sn-glycero-3-phosphate or PA), although at lower rate. Not regiospecific, it transfers acyl groups into any of the sn-1 and sn-2 positions of the monolysocardiolipin (MLCL), which is an important prerequisite for uniformity and symmetry in CL acyl distribution. Cannot transacylate dilysocardiolipin (DLCL), thus, the role of MLCL is limited to that of an acyl acceptor. CoA-independent, it can reshuffle molecular species within a single phospholipid class. Redistributes fatty acids between MLCL, CL, and other lipids, which prolongs the half-life of CL. Its action is completely reversible, which allows for cyclic changes, such as fission and fusion or bending and flattening of the membrane. Hence, by contributing to the flexibility of the lipid composition, it plays an important role in the dynamics of mitochondria membranes. Essential for the final stage of spermatogenesis, spermatid individualization (By similarity).
Required for the initiation of mitophagy (PubMed:33096711).
Required to ensure progression of spermatocytes through meiosis (By similarity).
Exon 7 of human tafazzin is essential for catalysis (PubMed:19700766).
Isoform 1
Catalyzes the transacylation between lysophosphatidate (such as 1-acyl-sn-glycero-3-phosphate) and phosphatidylglycerol (1,2-diacyl-sn-glycero-3-phospho-(1'-sn-glycerol)) (PubMed:19700766).
Contributes to cardiolipin (1',3'-bis-[1,2-diacyl-sn-glycero-3-phospho]-glycerol or CL) remodeling (PubMed:12930833, PubMed:19700766).
Isoform 3
Catalyzes the transacylation between lysophospholipids and phospholipids, and plays a fundamental role in cardiolipin (1',3'-bis-[1,2-diacyl-sn-glycero-3-phospho]-glycerol or CL) metabolism and remodeling.
Isoform 5
Catalytically inactive.
Isoform 7
Catalytically inactive.
Biological Process
Cardiac muscle contractionManual Assertion Based On ExperimentIMP:BHF-UCL
Cardiac muscle tissue developmentManual Assertion Based On ExperimentIMP:HGNC-UCL
Cardiolipin acyl-chain remodelingManual Assertion Based On ExperimentIBA:GO_Central
Cardiolipin biosynthetic processManual Assertion Based On ExperimentIMP:UniProtKB
Cardiolipin metabolic processManual Assertion Based On ExperimentIDA:UniProtKB
Cristae formationManual Assertion Based On ExperimentIMP:HGNC-UCL
Heart developmentManual Assertion Based On ExperimentIMP:HGNC-UCL
Heart morphogenesisISS:UniProtKB
HemopoiesisManual Assertion Based On ExperimentIMP:HGNC-UCL
Inner mitochondrial membrane organizationManual Assertion Based On ExperimentIBA:GO_Central
Mitochondrial ATP synthesis coupled electron transportManual Assertion Based On ExperimentIDA:BHF-UCL
Mitochondrial respiratory chain complex I assemblyManual Assertion Based On ExperimentIMP:HGNC-UCL
Mitochondrion organizationISS:UniProtKB
MitophagyManual Assertion Based On ExperimentIMP:UniProtKB
Muscle contractionManual Assertion Based On ExperimentIMP:HGNC-UCL
Positive regulation of ATP biosynthetic processIEA:Ensembl
Positive regulation of cardiolipin metabolic processIEA:Ensembl
Skeletal muscle tissue developmentManual Assertion Based On ExperimentIMP:HGNC-UCL
Spermatocyte divisionISS:UniProtKB
Involvement in disease
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.
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