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 |