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Tafazzin (TAZ)

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CMD3A; EFE2; EFE; BTHS; XAP-2; G4.5; Barth syndrome; Endocardial Fibroelastosis 2; Cardiomyopathy,Dilated 3A(X-Linked)

Tafazzin (TAZ)
CCC E564
HGNC 11577
MGI 109626
PubMed 19700766
RGD 1588532
UniProt Q16635
Wiki Tafazzin
Tafazzin 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.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPE564Hu01 Recombinant Tafazzin (TAZ) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies PAE564Hu01 Polyclonal Antibody to Tafazzin (TAZ) WB; IHC
MAE564Hu21 Monoclonal Antibody to Tafazzin (TAZ) WB; IHC; ICC; IP.
Assay Kits SEE564Hu ELISA Kit for Tafazzin (TAZ) Enzyme-linked immunosorbent assay for Antigen Detection.

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPE564Mu01 Recombinant Tafazzin (TAZ) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies PAE564Mu01 Polyclonal Antibody to Tafazzin (TAZ) WB; IHC; ICC; IP.
Assay Kits n/a CLIA Kit for Tafazzin (TAZ) CLIA Kit Customized Service Offer
n/a ELISA Kit for Tafazzin (TAZ) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPE564Ra01 Recombinant Tafazzin (TAZ) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies PAE564Ra01 Polyclonal Antibody to Tafazzin (TAZ) WB; IHC; ICC; IP.
Assay Kits n/a CLIA Kit for Tafazzin (TAZ) CLIA Kit Customized Service Offer
n/a ELISA Kit for Tafazzin (TAZ) ELISA Kit Customized Service Offer
  1. "A novel X-linked gene, G4.5. is responsible for Barth syndrome."Nat. Genet. 12:385-389(1996) [PubMed] [Europe PMC] [Abstract]
  2. "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
  3. "The DNA sequence of the human X chromosome." Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract]
  4. "Only one splice variant of the human TAZ gene encodes a functional protein with a role in cardiolipin metabolism."J. Biol. Chem. 278:43089-43094(2003) [PubMed] [Europe PMC] [Abstract]
  5. "Role of calcium-independent phospholipase A2 in the pathogenesis of Barth syndrome."Proc. Natl. Acad. Sci. U.S.A. 106:2337-2341(2009) [PubMed] [Europe PMC] [Abstract]
  6. "The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies."Am. J. Hum. Genet. 61:862-867(1997) [PubMed] [Europe PMC] [Abstract]
  7. "Neonatal, lethal noncompaction of the left ventricular myocardium is allelic with Barth syndrome."Am. J. Hum. Genet. 61:868-872(1997) [PubMed] [Europe PMC] [Abstract]
  8. "Novel gene mutations in patients with left ventricular noncompaction or Barth syndrome."Circulation 103:1256-1263(2001) [PubMed] [Europe PMC] [Abstract]
  9. "Novel missense mutation (R94S) in the TAZ (G4.5) gene in a Japanese patient with Barth syndrome."J. Hum. Genet. 47:229-231(2002) [PubMed] [Europe PMC] [Abstract]