TMEM43, Official Symbol TMEM43provided by HGNC Official Full Name transmembrane protein 43provided by HGNC Primary source HGNC:HGNC:28472 See related Ensembl:ENSG00000170876 MIM:612048; AllianceGenome:HGNC:28472 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as LUMA; ARVC5; ARVD5; AUNA3; EDMD7; EDMD7; AUNA2 Summary 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] Expression Ubiquitous expression in skin (RPKM 47.7), ovary (RPKM 42.5) and 25 other tissues See more Orthologs mouse all