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Related products :

Catalog number Product name Quantity
ARVD6 ARVD3 Gene arrhythmogenic right ventricular dysplasia 3
ARVD7 ARVD4 Gene arrhythmogenic right ventricular dysplasia 4
CNA1 CMYA5 Gene cardiomyopathy associated 5
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CMT2H CMR3A Gene cardiomyopathy, restrictive 3A (X-linked)
CMD2A CMD1K Gene cardiomyopathy, dilated 1K (autosomal dominant)
CMD1F CMD1B Gene cardiomyopathy, dilated 1B (autosomal dominant)
CMD1H CMD1C Gene cardiomyopathy, dilated 1C (autosomal dominant)
CMD1K CMD1F Gene cardiomyopathy, dilated 1F (autosomal dominant)
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CMDR CMD1Q Gene cardiomyopathy, dilated 1Q (autosomal dominant)
CMIP CMD2A Gene cardiomyopathy, dilated 2A (autosomal recessive)
CMR3A CMR1A Gene cardiomyopathy, restrictive 1A (autosomal dominant)
CMT2G CMR2A Gene cardiomyopathy, restrictive 2A (autosomal recessive)
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Pathways :

WP2118: Arrhythmogenic right ventricular cardiomyopathy

Related Genes :
[MYL3] Myosin light chain 3 (Cardiac myosin light chain 1) (CMLC1) (Myosin light chain 1, slow-twitch muscle B/ventricular isoform) (MLC1SB) (Ventricular myosin alkali light chain) (Ventricular myosin light chain 1) (VLCl) (Ventricular/slow twitch myosin alkali light chain) (MLC-lV/sb)
[MYL2 MLC2] Myosin regulatory light chain 2, ventricular/cardiac muscle isoform (MLC-2) (MLC-2v) (Cardiac myosin light chain 2) (Myosin light chain 2, slow skeletal/ventricular muscle isoform) (MLC-2s/v) (Ventricular myosin light chain 2)
[Myl2 Mylpc] Myosin regulatory light chain 2, ventricular/cardiac muscle isoform (MLC-2) (MLC-2v) (Myosin light chain 2, slow skeletal/ventricular muscle isoform) (MLC-2s/v)
[Xirp1 Cmya1 Xin] Xin actin-binding repeat-containing protein 1 (Cardiomyopathy-associated protein 1)
[DSP] Desmoplakin (DP) (250/210 kDa paraneoplastic pemphigus antigen)
[PKP2] Plakophilin-2
[DES] Desmin
[JUP CTNNG DP3] Junction plakoglobin (Catenin gamma) (Desmoplakin III) (Desmoplakin-3)
[DSG2 CDHF5] Desmoglein-2 (Cadherin family member 5) (HDGC)
[DSC2 CDHF2 DSC3] Desmocollin-2 (Cadherin family member 2) (Desmocollin-3) (Desmosomal glycoprotein II) (Desmosomal glycoprotein III)
[RYR2] Ryanodine receptor 2 (RYR-2) (RyR2) (hRYR-2) (Cardiac muscle ryanodine receptor) (Cardiac muscle ryanodine receptor-calcium release channel) (Type 2 ryanodine receptor)
[LMNA LMN1] Prelamin-A/C [Cleaved into: Lamin-A/C (70 kDa lamin) (Renal carcinoma antigen NY-REN-32)]
[LDB3 KIAA0613 ZASP] LIM domain-binding protein 3 (Protein cypher) (Z-band alternatively spliced PDZ-motif protein)
[Xirp2 Cmya3 Xin2] Xin actin-binding repeat-containing protein 2 (Beta-xin) (Cardiomyopathy-associated protein 3) (Myogenic MEF2-activated Xin-related protein) (Myomaxin) (mXinbeta)
[TGFB3] Transforming growth factor beta-3 proprotein [Cleaved into: Latency-associated peptide (LAP); Transforming growth factor beta-3 (TGF-beta-3)]
[CTNNA3] Catenin alpha-3 (Alpha T-catenin) (Cadherin-associated protein)
[TMEM43 UNQ2564/PRO6244] Transmembrane protein 43 (Protein LUMA)
[TTN] Titin (EC 2.7.11.1) (Connectin) (Rhabdomyosarcoma antigen MU-RMS-40.14)
[SCN5A] Sodium channel protein type 5 subunit alpha (HH1) (Sodium channel protein cardiac muscle subunit alpha) (Sodium channel protein type V subunit alpha) (Voltage-gated sodium channel subunit alpha Nav1.5)
[CACNA1C CACH2 CACN2 CACNL1A1 CCHL1A1] Voltage-dependent L-type calcium channel subunit alpha-1C (Calcium channel, L type, alpha-1 polypeptide, isoform 1, cardiac muscle) (Voltage-gated calcium channel subunit alpha Cav1.2)
[Myl2 Mlc2] Myosin regulatory light chain 2, ventricular/cardiac muscle isoform (MLC-2) (MLC-2v) (Myosin light chain 2, slow skeletal/ventricular muscle isoform) (MLC-2s/v)
[Cmya5 Sr553 Srfsd Tims] Cardiomyopathy-associated protein 5 (Heart and skeletal muscle-specific and sprouty domain-containing) (Myospryn) (Stretch-response protein 553) (Stretch-responsive fibronectin protein type 3) (TRIM-like protein)
[CMYA5 C5orf10 DTNBP2 SPRYD2 TRIM76] Cardiomyopathy-associated protein 5 (Dystrobrevin-binding protein 2) (Genethonin-3) (Myospryn) (SPRY domain-containing protein 2) (Tripartite motif-containing protein 76)
[Myl3 Mlc1v] Myosin light chain 3 (Myosin alkali light chain 1, ventricular) (MLClV) (Myosin light chain 1, slow-twitch muscle B/ventricular isoform) (MLC1SB) (Ventricular myosin light chain 1) (rVMLC1)
[XIRP2 CMYA3] Xin actin-binding repeat-containing protein 2 (Beta-xin) (Cardiomyopathy-associated protein 3) (Xeplin)
[VEPH1 KIAA1692 VEPH] Ventricular zone-expressed PH domain-containing protein homolog 1 (Protein melted)
[Myl3 Mlc1v Mylc] Myosin light chain 3 (Myosin alkali light chain 1, ventricular/slow skeletal muscle isoform) (Myosin light chain 1, slow-twitch muscle B/ventricular isoform) (MLC1SB)
[CALM1 CALM CAM CAM1] Calmodulin-1
[CALM3 CALML2 CAM3 CAMC CAMIII] Calmodulin-3
[MYBPC3] Myosin-binding protein C, cardiac-type (Cardiac MyBP-C) (C-protein, cardiac muscle isoform)

Bibliography :
[32081916] Binding of the periplakin linker requires vimentin acidic residues D176 and E187.
[32062046] Clinical characteristics and determinants of phenotype in TMEM43 Arrhythmogenic right ventricular cardiomyopathy type 5.
[32050722] Nucleoside Diphosphate Kinase B Contributes to Arrhythmogenesis in Human-Induced Pluripotent Stem Cell-Derived Cardiomyocytes from a Patient with Arrhythmogenic Right Ventricular Cardiomyopathy.
[32046637] Next-generation sequencing identified novel Desmoplakin frame-shift variant in patients with Arrhythmogenic cardiomyopathy.
[32033894] Cardiovascular Magnetic Resonance Imaging of Inherited Heart Conditions.
[32032135] Arrhythmogenic Right Ventricular Cardiomyopathy Diagnosis.
[32031609] Right ventricular dilatation in arrhythmogenic right ventricular cardiomyopathy: need for a revision of the 2010 International Task Force criteria.
[32031606] Cardiovascular magnetic resonance imaging volume criteria for arrhythmogenic right ventricular cardiomyopathy: need for update?
[32030316] Protein expression profile changes of lung tissue in patients with pulmonary hypertension.
[32022420] Homozygous deletion of exons 2-7 within TGFB3 gene in a child with severe Loeys-Dietz syndrome and Marfan-like features.