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The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen and the purity is > 95% (by SDS-PAGE).
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.
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Protein Aliases: Protein LUMA; Transmembrane protein 43
Gene Aliases: 1200015A22Rik; ARVC5; ARVD5; EDMD7; LUMA; TMEM43; UNQ2564/PRO6244
UniProt ID: (Human) Q9BTV4, (Mouse) Q9DBS1
Entrez Gene ID: (Human) 79188, (Mouse) 74122
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