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Our customer service representatives are available 24 hours, Monday through Friday to assist you.| Reactivity | Human Mouse |
| Tested applications | WB IHC |
| Recommended Dilution | WB 1:500 - 1:2000 IHC 1:50 - 1:100 |
| Calculated MW | 45kDa |
| Observed MW | Refer to figures |
| Immunogen | Recombinant protein of human TMEM43 |
| Storage Buffer | Store at -20℃. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3. |
| Synonym | LUMA; ARVC5; ARVD5; EDMD7; |
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.
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