Species: Hu, Mu, Rt
Applications: IHC
Host: Rabbit Polyclonal
Species: Hu, Mu, Rt
Applications: WB, IHC
Host: Rabbit Monoclonal
Species: Hu, Mu
Applications: WB
Host: Rabbit Polyclonal
Species: Hu
Applications: WB
Species: Hu
Applications: AC
Description
TMEM43 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].
Bioinformatics
| Entrez |
Human
|
| Uniprot |
Human
Human
|
| Product By Gene ID |
79188 |
| Alternate Names |
- ARVC5
- ARVD5
- DKFZp586G1919
- LUMA
- MGC3222
- Protein LUMA
- transmembrane protein 43
|
