Aliases for TMEM43 Gene
External Ids for TMEM43 Gene
Previous HGNC Symbols for TMEM43 Gene
Previous GeneCards Identifiers for TMEM43 Gene
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]
GeneCards Summary for TMEM43 Gene
TMEM43 (Transmembrane Protein 43) is a Protein Coding gene. Diseases associated with TMEM43 include Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant and Arrhythmogenic Right Ventricular Dysplasia, Familial, 5. Gene Ontology (GO) annotations related to this gene include protein self-association. An important paralog of this gene is ENSG00000268279.
UniProtKB/Swiss-Prot Summary for TMEM43 Gene
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).