TMEM43 抗体
(Transmembrane Protein 43 (TMEM43))
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].
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Latest Publications for our TMEM43 抗体
: "Mutation analysis and evaluation of the cardiac localization of TMEM43 in arrhythmogenic right ventricular cardiomyopathy." in: Clinical genetics, Vol. 80, Issue 3, pp. 256-64, (2011) (PubMed).
Aliases for TMEM43 抗体
transmembrane protein 43 (TMEM43) 抗体transmembrane protein 43 (tmem43) 抗体
transmembrane protein 43 (Tmem43) 抗体
1200015A22Rik 抗体
ARVC5 抗体
ARVD5 抗体
EDMD7 抗体
LUMA 抗体
zgc:85946 抗体
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