TMEM43 Rabbit polyclonal antibody

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£151.00

SKU:: A8509
Zusätzliche Namen:: ARVC5|ARVD5|AUNA2|AUNA3|EDMD7|LUMA|TMEM43
Anwendung:: ELISA, WB
Molekulargewicht:: 45kDa
Spezies-Reaktivität:: Human
Aufreinigung:: Affinity Purified
Lagerbedingungen:: -20[o]C Avoid freeze/thaw cycles.
Hersteller:: Abclonal
Host:: Rabbit
Reaktivitäten:: Human, Mouse
Immunogen:: Recombinant protein (or fragment).This information is considered to be commercially sensitive.
Formulierung:: Unmodified
Sequenz:: VAPENEGRLVHIIGALRTSKLLSDPNYGVHLPAVKLRRHVEMYQWVETEESREYTEDGQVKKETRYSYNTEWRSEIINSKNFDREIGHKNPSAMAVESFMATAPFVQIGRFFLSSGLIDKVDNFKSLSLSKLEDPHVDIIRRGDFFYHSENPKYPEVGDLRVSFSYAGLSGDDPDLGPAHVVTVIARQRGDQLVPFSTKSGDTLLLLHHGDFSAEEVFHRELRSNSMKTWG
Uniprot:: Q9BTV4
Synonyme:: ARVC5;ARVD5;EDMD7;LUMA;Protein LUMA;transmembrane protein 43
Weitere Details:: 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.