Little is known about the function of the TMEM43 gene. It contains a response element for PPARgamma (an adipogenic transcription factor), which may explain the fibrofatty replacement of the myocardium, a characteristic pathological finding in ARVC.
Pathology
Missense mutation in the TMEM43 gene in Arrhythmogenic Right Ventricular Cardiomyopathy Type 5 (ARVD5) (18313022)
See also
TMEMs
References
Merner ND, Hodgkinson KA, Haywood AF, Connors S, French VM, Drenckhahn JD, Kupprion C, Ramadanova K, Thierfelder L, McKenna W, Gallagher B, Morris-Larkin L, Bassett AS, Parfrey PS, Young TL. Arrhythmogenic Right Ventricular Cardiomyopathy Type 5 Is a Fully Penetrant, Lethal Arrhythmic Disorder Caused by a Missense Mutation in the TMEM43 Gene. Am J Hum Genet. 2008 Feb 27; PMID: 18313022