The TMEM43 gene homepage
| General information |
| Gene symbol |
TMEM43 |
| Gene name |
transmembrane protein 43 |
| Chromosome |
3 |
| Chromosomal band |
p25.1 |
| Imprinted |
- |
| Genomic reference |
NG_008975.1 |
| Transcript reference |
NM_024334.2 |
| Associated with diseases |
WD |
| Citation reference(s) |
Pan M et al, 2011
Zhang T et al, 2010 |
| Refseq URL |
Coding DNA reference sequence |
| Curators (0) |
- |
| Total number of public variants reported |
4 |
| Unique public DNA variants reported |
4 |
| Individuals with public variants |
0 |
| Hidden variants |
- |
| Notes |
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]
Also known as： LUMA; ARVC5; ARVD5; EDMD7 |
| Date created |
May 04, 2013 |
Active transcripts
| Copyright & disclaimer |
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