Recombinant Human Plakophilin-2 (PKP2), Truncated

Uniprot Id

Q99959

Target Species

Human

Target Name

PKP2

Target Full Name

Plakophilin-2

Target Function

May play a role in junctional plaques.

Target Involvement

Arrhythmogenic right ventricular dysplasia, familial, 9 (ARVD9)

Target Subcellular Location

Nucleus. Cell junction, desmosome. Note=Nuclear and associated with desmosomes.

Target Protein Families

Beta-catenin family

Target Tissue Specificity

Detected in heart right ventricle (at protein level). Widely expressed. Found at desmosomal plaques in simple and stratified epithelia and in non-epithelial tissues such as myocardium and lymph node follicles. In most stratified epithelia found in the des

Target Synonyms

ARVD 9; ARVD9; PKP 2; PKP2; PKP2_HUMAN; Plakophilin-2; Plakophilin2

Target Background

This gene encodes a member of the arm-repeat (armadillo) and plakophilin gene families. Plakophilin proteins contain numerous armadillo repeats, localize to cell desmosomes and nuclei, and participate in linking cadherins to intermediate filaments in the cytoskeleton. This gene may regulate the signaling activity of beta-catenin and is required to maintain transcription of genes that control intracellular calcium cycling including ryanodine receptor 2, ankyrin-B, triadin, and calcium channel, voltage-dependent, L type, alpha 1C. Mutations in this gene are associated with different inherited cardiac conditions including Arrythmogenic Cardiomyopathy, Brugada Syndrome, and Idiopathic Ventricular Fibrillation. A processed pseudogene with high similarity to this gene has been mapped to chromosome 12p13.