Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
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Immunogen sequence: VAPENEGRLV HIIGALRTSK LLSDPNYGVH LPAVKLRRHV EMYQWVETEE SREYTEDGQV KKETRYSYNT EWRSEIINSK NFDREIGHKN PSAMAVESFM ATAPFVQIGR FFLSSGLIDK VDNFKSLSLS KLEDPHVDII RRGDFFYHSE NPKYPEVGDL RVSFSYAGLS GDDPDLGPAH VVTVIARQRG DQLVPFSTKS GDTLLLLHHG DFSAEEVFHR ELRSNSMKTW G
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.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
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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