Reactive species
Human;Rat;Mouse;
Antibody type
Polyclonal Antibody
Immunogen
Synthesized peptide derived from the Internal region of human Tafazzin.
Specificity
Tafazzin Polyclonal Antibody detects endogenous levels of Tafazzin protein.
Constitute
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
Source
Polyclonal, Rabbit,IgG
Dilution rate
Western Blot: 1/500 - 1/2000. ELISA: 1/5000. Not yet tested in other applications.
Purification process
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
Other name
TAZ; EFE2; G4.5; Tafazzin; Protein G4.5
Background
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
disease:Defects in TAZ are the cause of 3-methylglutaconic aciduria type 2 (MGA2) [MIM:302060]. MGA2 is a severe metabolic disorder, often fatal in childhood, characterized by dilated cardiomyopathy, skeletal myopathy, short stature, neutropenia and 3-methylglutaconicaciduria.,disease:Defects in TAZ are the cause of non-compaction of left ventricular myocardium isolated X-linked (LVNCX) [MIM:300183]. LVNC is due to an arrest of myocardial morphogenesis. The disorder is characterized by a hypertrophic left ventricular with deep trabeculations and with poor systolic function, with or without associated left ventricular dilation. In some cases, the right ventricle is also affected.,domain:The hydrophilic domain may serve as an exposed loop interacting with other proteins.,function:Some isoforms may be involved in cardiolipin metabolism.,online information:TAZ mutation db,similarity:Belongs
