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Protein Page:
plakophilin 2 (human)

Overview
plakophilin 2 May play a role in junctional plaques. Defects in PKP2 are the cause of familial arrhythmogenic right ventricular dysplasia type 9 (ARVD9); also known as arrhythmogenic right ventricular cardiomyopathy 9 (ARVC9). ARVD is an autosomal dominant disease characterized by partial degeneration of the myocardium of the right ventricle, electrical instability, and sudden death. It is clinically defined by electrocardiographic and angiographic criteria; pathologic findings, replacement of ventricular myocardium with fatty and fibrous elements, preferentially involve the right ventricular free wall. Belongs to the beta-catenin family. 2 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
Protein type: Cell adhesion; Membrane protein, integral; Motility/polarity/chemotaxis
Chromosomal Location of Human Ortholog: 12p11
Cellular Component: adherens junction; cell junction; cell-cell adherens junction; desmosome; integral to membrane; intercellular junction; intermediate filament; nucleoplasm; plasma membrane
Molecular Function: alpha-catenin binding; intermediate filament binding; protein binding; protein complex scaffold; protein kinase C binding; sodium channel regulator activity
Biological Process: cell-cell adhesion; gap junction assembly; heart development; intermediate filament bundle assembly; lipid homeostasis; maintenance of organ identity; negative regulation of cell migration; negative regulation of cell proliferation; ventricular cardiac muscle morphogenesis
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Reference #:  Q99959 (UniProtKB)
Alt. Names/Synonyms: ARVD9; MGC177501; PKP2; plakophilin 2; Plakophilin-2
Gene Symbols: PKP2
Molecular weight: 97,415 Da
Basal Isoelectric point: 9.39  Predict pI for various phosphorylation states
Select Structure to View Below

plakophilin 2

Protein Structure Not Found.
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