Background:This gene belongs to the TMEM43 family. Defects in this gene are the cause of familial arrhythmogenic right ventricular dysplasia type 5 (ARVD5), also known as arrhythmogenic right ventricular cardiomyopathy type 5 (ARVC5). Arrhythmogenic right ventricular dysplasia is an inherited disorder, often involving both ventricles, and is characterized by ventricular tachycardia, heart failure, sudden cardiac death, and fibrofatty replacement of cardiomyocytes. This gene contains a response element for PPAR gamma (an adipogenic transcription factor), which may explain the fibrofatty replacement of the myocardium, a characteristic pathological finding in ARVC.
仕様
Synonyms:ARVC5,ARVD5,EDMD7,LUMA,Protein LUMA,Tmem43,TMM43,Transmembrane protein 43
Host:Rabbit
Reactivity:Human,Mouse
Applications:WB,IHC
Concentration:1mg/ml
Immunogen:Recombinant protein of human TMEM43
Purification Method:Affinity purification
Clonality:Polyclonal
Conjugation:Unconjugated
Buffer:Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3.
Dilution:WB1:500 - 1:2000 IHC1:50 - 1:100
Gene_ID(human):79188
Swissprot:Q9BTV4
Isotype:IgG
Research Areas:Cancer, Signal transduction, Tags & Cell Markers