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Tafazzin

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Title: Tafazzin  
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Subject: Hippo signaling pathway, BTHS, Tafazzi, Taz, Dilated cardiomyopathy
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Tafazzin

Tafazzin
Identifiers
Symbols  ; BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; Taz1
External IDs GeneCards:
EC number
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)
RefSeq (protein)
Location (UCSC)
PubMed search

Tafazzin is a protein that in humans is encoded by the TAZ gene.[1] Tafazzin is highly expressed in cardiac and skeletal muscle. It is involved in the metabolism of cardiolipin.[2]

Tafazzin functions as a phospholipid-lysophospholipid transacylase.[3][4]

Contents

  • Pathology 1
  • History 2
  • References 3
  • Further reading 4
  • External links 5

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),[5] 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.[6][7]

History

The protein was identified by Italian scientists Silvia Bione et al. in 1996.[8] 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.

References

  1. ^ "Entrez Gene: tafazzin". 
  2. ^ Malhotra A, Xu Y, Ren M, Schlame M (April 2009). "Formation of molecular species of mitochondrial cardiolipin. 1. A novel transacylation mechanism to shuttle fatty acids between sn-1 and sn-2 positions of multiple phospholipid species". Biochim. Biophys. Acta 1791 (4): 314–20.  
  3. ^ Xu Y, Zhang S, Malhotra A, et al. (October 2009). "Characterization of Tafazzin Splice Variants from Humans and Fruit Flies". J. Biol. Chem. 284 (42): 29230–9.  
  4. ^ Xu Y, Malhotra A, Ren M, Schlame M (December 2006). "The enzymatic function of tafazzin". J. Biol. Chem. 281 (51): 39217–24.  
  5. ^ Neuwald AF (August 1997). "Barth syndrome may be due to an acyltransferase deficiency". Curr. Biol. 7 (8): R465–6.  
  6. ^ Barth PG, Wanders RJ, Vreken P, Janssen EA, Lam J, Baas F (June 1999). "X-linked cardioskeletal myopathy and neutropenia (Barth syndrome) (MIM 302060)". J. Inherit. Metab. Dis. 22 (4): 555–67.  
  7. ^ Valianpour F, Mitsakos V, Schlemmer D, Towbin JA, Taylor JM, Ekert PG, Thorburn DR, Munnich A, Wanders RJ, Barth PG, Vaz FM (June 2005). "Monolysocardiolipins accumulate in Barth syndrome but do not lead to enhanced apoptosis". J. Lipid Res. 46 (6): 1182–95.  
  8. ^ Bione S, D'Adamo P, Maestrini E, Gedeon AK, Bolhuis PA, Toniolo D (April 1996). "A novel X-linked gene, G4.5. is responsible for Barth syndrome". Nat. Genet. 12 (4): 385–9.  

Further reading

  • Acehan D, Vaz F, Houtkooper RH, et al. (2011 Jan 14;286(2):899–908.). "Cardiac and Skeletal Muscle Defects in a Mouse Model of Human Barth Syndrome". J Biol Chem. 286 (2): 899–908.  
  • "Mouse model of Barth syndrome". SciBX. 3(47); (47). Dec 9, 2010.  
  • Soustek MS, Falk D, Mah C, Toth M, Schlame M, et al. (2011). "Characterization of a Transgenic Short Hairpin RNA-Induced Murine Model of Tafazzin Deficiency". Hum Gene Ther. 22 (7): 865–71.  
  • Takeda A, Sudo A, Yamada M, Yamazawa H, et al. (2011 Sep 20.). "Barth syndrome diagnosed in the subclinical stage of heart failure based on the presence of lipid storage myopathy and isolated noncompaction of the ventricular myocardium". Eur J Pediatr 170 (11): 1481–4.  
  • Bachou T, Giannakopoulos A, Trapali C, et al. (2009). "A novel mutation in the G4.5 (TAZ) gene in a Greek patient with Barth syndrome". Blood Cells Mol. Dis. 42 (3): 262–4.  
  • Gonzalez IL (2005). "Barth syndrome: TAZ gene mutations, mRNAs, and evolution". Am. J. Med. Genet. A 134 (4): 409–14.  
  • Stelzl U, Worm U, Lalowski M, et al. (2005). "A human protein-protein interaction network: a resource for annotating the proteome". Cell 122 (6): 957–68.  
  • Barth PG, Valianpour F, Bowen VM, et al. (2004). "X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): an update". Am. J. Med. Genet. A 126A (4): 349–54.  
  • Zimmerman RS, Cox S, Lakdawala NK, et al. (2010). "A novel custom resequencing array for dilated cardiomyopathy". Genet. Med. 12 (5): 268–78.  
  • Malhotra A, Edelman-Novemsky I, Xu Y, et al. (2009). "Role of calcium-independent phospholipase A2 in the pathogenesis of Barth syndrome". Proc. Natl. Acad. Sci. U.S.A. 106 (7): 2337–41.  
  • van Werkhoven MA, Thorburn DR, Gedeon AK, Pitt JJ (2006). "Monolysocardiolipin in cultured fibroblasts is a sensitive and specific marker for Barth Syndrome". J. Lipid Res. 47 (10): 2346–51.  
  • Acehan D, Xu Y, Stokes DL, Schlame M (2007). "Comparison of lymphoblast mitochondria from normal subjects and patients with Barth syndrome using electron microscopic tomography". Lab. Invest. 87 (1): 40–8.  
  • Barth PG, Wanders RJ, Vreken P, et al. (1999). "X-linked cardioskeletal myopathy and neutropenia (Barth syndrome) (MIM 302060)". J. Inherit. Metab. Dis. 22 (4): 555–67.  
  • Claypool SM, Boontheung P, McCaffery JM, et al. (2008). "The Cardiolipin Transacylase, Tafazzin, Associates with Two Distinct Respiratory Components Providing Insight into Barth Syndrome". Mol. Biol. Cell 19 (12): 5143–55.  
  • Mehrle A, Rosenfelder H, Schupp I, et al. (2006). "The LIFEdb database in 2006". Nucleic Acids Res. 34 (Database issue): D415–8.  
  • McKenzie M, Lazarou M, Thorburn DR, Ryan MT (2006). "Mitochondrial respiratory chain supercomplexes are destabilized in Barth Syndrome patients". J. Mol. Biol. 361 (3): 462–9.  
  • Lu B, Kelher MR, Lee DP, et al. (2004). "Complex expression pattern of the Barth syndrome gene product tafazzin in human cell lines and murine tissues". Biochem. Cell Biol. 82 (5): 569–76.  
  • Ma L, Vaz FM, Gu Z, et al. (2004). "The human TAZ gene complements mitochondrial dysfunction in the yeast taz1Delta mutant. Implications for Barth syndrome". J. Biol. Chem. 279 (43): 44394–9.  
  • Xu Y, Zhang S, Malhotra A, et al. (2009). "Characterization of Tafazzin Splice Variants from Humans and Fruit Flies". J. Biol. Chem. 284 (42): 29230–9.  
  • Houtkooper RH, Turkenburg M, Poll-The BT, et al. (2009). "The enigmatic role of tafazzin in cardiolipin metabolism". Biochim. Biophys. Acta 1788 (10): 2003–14.  
  • Wiemann S, Arlt D, Huber W, et al. (2004). "From ORFeome to Biology: A Functional Genomics Pipeline". Genome Res. 14 (10B): 2136–44.  
  • Saunders MA, Slatkin M, Garner C, et al. (2005). "The Extent of Linkage Disequilibrium Caused by Selection on G6PD in Humans". Genetics 171 (3): 1219–29.  
  • Vaz FM, Houtkooper RH, Valianpour F, et al. (2003). "Only one splice variant of the human TAZ gene encodes a functional protein with a role in cardiolipin metabolism". J. Biol. Chem. 278 (44): 43089–94.  

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)
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