Details for Gene PKP1

GENE NAME PKP1
CHROMOSOME 1
ENSEMBL ID ENSG00000081277
ENTREZ ID 5317
UNIPROT ACCESSION NUMBER Q13835
GO MOLECULAR FUNCTION protein binding; intermediate filament binding; structural constituent of skin epidermis; lamin binding; cadherin binding
ESSENTIAL IN MOUSE None
PATHWAYS R-HSA-75153; R-HSA-6805567; R-HSA-6798695; R-HSA-6809371; R-HSA-1266738; R-HSA-168256; R-HSA-5357801; R-HSA-109581; R-HSA-111465; R-HSA-351906; R-HSA-168249
1 combination linked to PKP1 OLI1042
1 variant linked to PKP1 PKP1:c.883C>G, p.Leu295Val
1 disease linked to PKP1 Primary ovarian failure

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