TMEM43 / LUMA antibody

Principal name

TMEM43 / LUMA antibody

Alternative names for TMEM43 / LUMA antibody

Transmembrane protein 43

SwissProt ID

Q5XIP9 (Rat), Q9BTV4 (Human), Q9DBS1 (Mouse), Q9VSB9 (Drome)

Gene ID

79188 (TMEM43)

Available reactivities

Hu (Human)

Available hosts


Available applications

Western blot / Immunoblot (WB), Paraffin Sections (P)

Background of TMEM43 / LUMA antibody

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].

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