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TMEM43 产品

(Transmembrane Protein 43 (TMEM43))

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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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Featured TMEM43 Categories

TMEM43 抗体

High quality antibodies with extensive validation data.

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Latest Publications for our TMEM43 Products

Christensen, Andersen, Tybjaerg-Hansen, Haunso, Svendsen: "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).

Synonyms and alternative names related to TMEM43

transmembrane protein 43 (TMEM43), transmembrane protein 43 (tmem43), transmembrane protein 43 (Tmem43), 1200015A22Rik, ARVC5, ARVD5, EDMD7, LUMA, zgc:85946

Protein level used designations for TMEM43

  • elastin
  • transmembrane protein 43
  • Transmembrane protein 43
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