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1 Sarcoplasmic reticulum (SR) CACNA1C ITGA2B CACNA1S CACNG7 JUP TCF7L2 ITGA1 Calcium RYR2 ITGB4 ITGB7 JUP DSC2 PKP2 EMD CDH2 CTNNA2 CACNA2D1 CTNNA3 DSP ECM-receptor interaction DAG1 DES SGCD DSG2 Calcium DSP ITGA10 Calcium CACNB4 ACTG1 ACTB ACTN1 DAG1 PKP2 DSC2 PKP2 LEF1 TCF7L1 ITGA5 CACNG3 ITGA8 CTNNA3 JUP Calcium LMNA CACNA2D2 ATP2A2 LAMA2 ITGA2 CTNNB1 ITGB8 ACTN2 Cardiac muscle contraction ITGB5 DSC2 CACNB1 CACNB2 ITGA6 CTNNA1 CACNA1D DSG2 TCF7 JUP CDH2 ITGA11 CACNB3 SLC8A1 JUP ACTN3 CACNG2 JUP DSC2 CACNG8 CACNG1 Sodium ITGA7 PKP2 CACNA2D3 Wnt signaling pathway ITGB6 JUP CACNA2D4 ACTB CACNG4 SGCA DSG2 DSP CTNNA1 ACTN4 ITGA4 Gap junction ACTG1 CACNA1F PKP2 PKP2 ITGAV ITGB3 JUP ITGA3 ITGA9 CACNG5 SGCB SGCG DSG2 CACNG6 CTNNA2 ITGB1 Calcium Calcium Calcium Calcium Sodium Cardiac myocyte Cardiac myocyte Sarcolemma Adherens junction Desmome Cardiomyocyte detatchment Gap junction GJA1 GJA1 GJA1 GJA1 Competition between plakoglobin and beta-catenin Inhibition of Wnt/beta-catenin signaling Nucleus Extracellular Matrix (ECM) Hyperactivation or hypersensitivity to calcium Imbalance of calcium homeostasis Distribution of normal excitation-contraction coupling Nuclear localization of plakoglobin Apoptosis and/or necrosis Inflammation Replacement of RV (later LV) myocardium by fibrofatty tissue Symptomatic arrhythmias RV (and LV) failure Environmental factors, autonomic nervous system DSP DSP DSP Intermediate filament DMD DES Z Disk Z Disk M Disk Adipo-and fibrogenesis Dystroglycan complex Sarcoglycan complex
Description
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart disease that may result in arrhythmia, heart failure, and sudden death. Hallmark pathologies of ARVC include myocyte loss and fibrofatty replacement.
Proteins on this pathway have targeted assays available via the
CPTAC Assay Portal
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