Details for Gene PKP2

GENE NAME PKP2
CHROMOSOME 12
ENSEMBL ID ENSG00000057294
ENTREZ ID 5318
UNIPROT ACCESSION NUMBER Q99959
GO MOLECULAR FUNCTION alpha-catenin binding; cadherin binding; intermediate filament binding; molecular adaptor activity; protein kinase C binding
ESSENTIAL IN MOUSE Essential
PATHWAYS R-HSA-6805567; hsa05412; R-HSA-6809371; R-HSA-1266738
1 combination linked to PKP2 OLI231
1 variant linked to PKP2 PKP2:c.1759G>A, p.Val587Ile
1 disease linked to PKP2 Hypertrophic cardiomyopathy

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