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TMEM43
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]
Protein class
Disease related genes, Human disease related genes
Predicted location
Membrane
Single cell type specificity
Cell type enhanced (Alveolar cells type 1)
Immune cell specificity
Low immune cell specificity
Cell line specificity
Low cell line specificity
Interaction
Can form oligomers through the transmembrane domains. Interacts with EMD; the interaction retains EMD at the inner nuclear membrane. Interacts with LMNA and LMNB2 (By similarity). Interacts with SUN2. Interacts with RNF26; this interaction is important to modulate innate immune signaling through the cGAS-STING pathway (PubMed:32614325). Interacts with CARD10 (PubMed:27991920).
More Types Infomation
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- Derivation: Phage display library
- Species Reactivity: Human, Mouse, Rat
- Type: Rabbit IgG
- Application: WB, IHC-P
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- Species Reactivity: Human, Rat
- Type: Rabbit IgG
- Application: WB, IHC-P
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For Research Use Only. Not For Clinical Use.