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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for TMEM43 (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID79188
Official gene symbolTMEM43
Full nametransmembrane protein 43
Aliases,ARVC5,ARVD5,DKFZp586G1919,LUMA,MGC3222,
Gene summaryThis 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]
LocationChromosome: 3   Locus: 3p25.1
Gene position14166440 - 14185180  Map Viewer
Gene orientationplus
Gene size18741 bp
Gene sequence
OMIM ID612048