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TMEM43 transmembrane protein 43

Gene ID: 79188, updated on 21-Mar-2023
Gene type: protein coding
Also known as: LUMA; ARVC5; ARVD5; AUNA3; EDMD7; EDMD7; AUNA2


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]

Copy number response

Copy number response

No evidence available (Last evaluated 2015-11-08)

ClinGen Genome Curation Page

No evidence available (Last evaluated 2015-11-08)

ClinGen Genome Curation Page

Genomic context

Chromosome: 3; NC_000003.12 (14125052..14143680)
Total number of exons:


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