免疫原
Synthesized peptide derived from the Internal region of human Tafazzin.
特异性
Tafazzin Polyclonal Antibody detects endogenous levels of Tafazzin protein.
组成（Formulation）
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
稀释比例
Western Blot: 1/500 - 1/2000. ELISA: 1/5000. Not yet tested in other applications.
纯化工艺（Immunogen）
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
背景（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],
功能
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
其他名称
EFE;TAZ;BTHS;EFE2;G4.5;Taz1;CMD3A;LVNCX;Tafazzin / TAZ;Tafazzin;Protein G4.5
Fields
>>Glycerophospholipid metabolism
细胞定位
Mitochondrion outer membrane ; Peripheral membrane protein ; Intermembrane side . Mitochondrion inner membrane ; Peripheral membrane protein ; Intermembrane side .; [Isoform 1]: Mitochondrion membrane .; [Isoform 2]: Cytoplasm .; [Isoform 3]: Mitochondrion membrane .; [Isoform 5]: Mitochondrion membrane .; [Isoform 6]: Cytoplasm .; [Isoform 7]: Mitochondrion membrane .; [Isoform 8]: Cytoplasm .; [Isoform 9]: Cytoplasm .
组织表达
High levels in cardiac and skeletal muscle. Up to 10 isoforms can be present in different amounts in different tissues. Most isoforms are ubiquitous. Isoforms that lack the N-terminus are found in leukocytes and fibroblasts, but not in heart and skeletal muscle. Some forms appear restricted to cardiac and skeletal muscle or to leukocytes.
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