产品名称
Tafazzin Rabbit Polyclonal Antibody
别名
TAZ; EFE2; G4.5; Tafazzin; Protein G4.5
存储缓冲液
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% New type preservative N.
Human Gene Link
http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=6901
Human Swissprot No.
Q16635
Human Swissprot Link
http://www.uniprot.org/uniprotkb/Q16635/entry
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.
稀释度
WB 1:500 - 1:2000. ELISA: 1:5000. Not yet tested in other applications.
宿主
Polyclonal, Rabbit,IgG
背景介绍
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],
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.
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 .
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 to the taffazin family.,tissue specificity: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.,
纯化
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
