This gene belongs to the TMEM43 family. Defects in thisngene are the cause of familial arrhythmogenic right ventricularndysplasia type 5 (ARVD5), also known as arrhythmogenic rightnventricular cardiomyopathy type 5 (ARVC5). Arrhythmogenic rightnventricular dysplasia is an inherited disorder, often involvingnboth ventricles, and is characterized by ventricular tachycardia,nheart failure, sudden cardiac death, and fibrofatty replacement ofncardiomyocytes. This gene contains a response element for PPARngamma (an adipogenic transcription factor), which may explain thenfibrofatty replacement of the myocardium, a characteristicnpathological finding in ARVC.
应用类型
WB,IHC
免疫原
This TMEM43 antibody is generated from rabbits immunized with a KLH conjugated synthetic peptide between 195-223 amino acids from the Central region of human TMEM43.
