Gene Symbol | PKP2 |
Entrez Gene ID | 5318 |
Full Name | plakophilin 2 |
Synonyms | ARVD9 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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 product may regulate the signaling activity of beta-catenin. Two alternately spliced transcripts encoding two protein isoforms have been identified. A processed pseudogene with high similarity to this locus has been mapped to chromosome 12p13. [provided by RefSeq, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | Arrhythmogenic right ventricular dysplasia 9, 609040 (3) |