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FLASH GENE
Symbol PKP1 contributors: mct - updated : 23-06-2015
HGNC name plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)
HGNC id 9023
ASSOCIATED DISORDERS
corresponding disease(s) EBSPD
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
tumoral     --low  
PKP1 loss secondary to promoter methylation, as well as other mechanisms, may promote the progression of Barrett esophagus (BE) to esophageal adenocarcinoma (EAC) in a subset of patients via decreased desmosome assembly and increased cell motility
constitutional     --low  
results in an integral weakness within the desmosomal plaque, leading to desmosomal detachment and cell-cell separation
Susceptibility
Variant & Polymorphism
Candidate gene
Marker
Therapy target
ANIMAL & CELL MODELS