| Protein Name | transmembrane protein 43 |
|---|---|
| Organism | Homo sapiens |
| Gene ID | 79188 |
| Gene Symbol | TMEM43 |
| UniProt | Q9BTV4 (TMM43_HUMAN), A0A024R2F9 (A0A024R2F9_HUMAN) |
| Relationships |
Total Number of functionally related compound(s) :
7
Total Number of Articles : 6 |
Description |
transmembrane protein 43 |
| Gene Summary |
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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