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. [provided by RefSeq, Oct 2008]

  • Nuclear membrane organization
  • Emery-dreifuss muscular dystrophy 7, autosomal dominant
  • Arrhythmogenic right ventricular dysplasia, familial, 5
  • Emery-dreifuss muscular dystrophy 2, autosomal dominant
  • Arrhythmogenic right ventricular cardiomyopathy
  • Familial isolated arrhythmogenic ventricular dysplasia, right dominant form

Gene Location