Gene Details in PCMdb

PKP1 Gene Details
Basic Information
Gene SymbolPKP1
Gene Name plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)
Chromosome Location 1q32
Sequences
Nucleotide Sequence NM_000299
Protein SequenceUniProtKB:Q13835
Visualization
NCBI Sequence ViewerNCBI:NM_000299
Ensembl Genome BrowserENSG00000081277
UCSC Genome Browser UCSC:1q32
Human Gene Locus ViewH-InvDB:PKP1
Gene Information
Ensembl GeneEnsembl:ENSG00000081277
CCDS GeneCCDS:CCDS30966.1
UCSC GeneUCSC:uc001gwe.3
Gene CardGeneCards
Genetic Testing ReportGenetic Testing Registry
Wiki Gene WikiGene:PKP1
Gene Annotation
InterproInterPro:Q13835
QuickGoQuickGo:Q13835
ReactomeReactome:Q13835
BioGPSBioGPS
Gene AtlasGENATLAS
Mutation/Phenotype
COSMIC GeneCOSMIC
OMIM DatabaseOMIM
DECIPHERDECIPHER:PKP1
Gene References
GoPubmed GoPubmed:PKP1
PubmedPubmed:9272178


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