TMEM43
Gene Information
- Official Symbol: TMEM43
- Official Name: transmembrane protein 43
- Aliases and Previous Symbols: N/A
- Entrez ID: 79188
- UniProt: Q9BTV4
- Interactions: BioGRID
- PubMed articles: Open PubMed
- OMIM: Open OMIM
Function Summary
- Entrez 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].
- UniProt Summary: May have an important role in maintaining nuclear envelope structure by organizing protein complexes at the inner nuclear membrane. Required for retaining emerin at the inner nuclear membrane (By similarity). {ECO:0000250}.
CRISPR Data
Essentiality in NALM6
- Essentiality Rank: 11457
- Expression level (log2 read counts): 6.29
TMEM43 Expression in NALM6 Cells: 6.29
