PKP1 Chromosome 1
Plakophilin 1
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What This Gene Does
This gene encodes a member of the arm-repeat (armadillo) and plakophilin gene families. Plakophilin proteins contain numerous armadillo repeats, localize to cell desmosomes and nuclei, and participate in linking cadherins to intermediate filaments in the cytoskeleton. This protein may be involved in molecular recruitment and stabilization during desmosome formation. Mutations in this gene have been associated with the ectodermal dysplasia/skin fragility syndrome. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]
Gene Info
Gene Group
"Armadillo repeat containing|Plakophilins"
Locus Type
gene with protein product
Location
1q32.1
Ensembl
ENSG00000081277
Associated Conditions (2)
Epidermolysis bullosa simplex due to plakophilin deficiency
Inborn genetic diseases
Key Variants
RS141060367
Conflicting classifications of pathogenicity
Epidermolysis bullosa simplex due to plakophilin deficiency, Epidermolysis bullosa simplex due to plakophilin deficiency
Health Risk
RS142096411
Conflicting classifications of pathogenicity
Epidermolysis bullosa simplex due to plakophilin deficiency, Inborn genetic diseases, Epidermolysis bullosa simplex due to plakophilin deficiency
Health Risk
RS147328328
Conflicting classifications of pathogenicity
Epidermolysis bullosa simplex due to plakophilin deficiency, Epidermolysis bullosa simplex due to plakophilin deficiency
Health Risk
RS148096263
Conflicting classifications of pathogenicity
Epidermolysis bullosa simplex due to plakophilin deficiency, Epidermolysis bullosa simplex due to plakophilin deficiency
Health Risk
RS150488138
Conflicting classifications of pathogenicity
Epidermolysis bullosa simplex due to plakophilin deficiency, Epidermolysis bullosa simplex due to plakophilin deficiency
Health Risk
RS367893541
Conflicting classifications of pathogenicity
Epidermolysis bullosa simplex due to plakophilin deficiency, Epidermolysis bullosa simplex due to plakophilin deficiency
Health Risk
RS369918615
Conflicting classifications of pathogenicity
Epidermolysis bullosa simplex due to plakophilin deficiency, Epidermolysis bullosa simplex due to plakophilin deficiency
Health Risk
RS374045033
Conflicting classifications of pathogenicity
Epidermolysis bullosa simplex due to plakophilin deficiency, Epidermolysis bullosa simplex due to plakophilin deficiency
Health Risk
RS569564663
Conflicting classifications of pathogenicity
Epidermolysis bullosa simplex due to plakophilin deficiency, Epidermolysis bullosa simplex due to plakophilin deficiency
Health Risk
RS74136386
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS752689001
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1553275192
Likely pathogenic
Epidermolysis bullosa simplex due to plakophilin deficiency, Epidermolysis bullosa simplex due to plakophilin deficiency
Health Risk
All Variants (19)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS141060367 | Health Risk | Conflicting classifications of pathogenicity | Epidermolysis bullosa simplex due to plakophilin deficiency, Epidermolysis bullosa simplex due to plakophilin deficiency |
| RS142096411 | Health Risk | Conflicting classifications of pathogenicity | Epidermolysis bullosa simplex due to plakophilin deficiency, Inborn genetic diseases, Epidermolysis bullosa simplex due to plakophilin deficiency |
| RS147328328 | Health Risk | Conflicting classifications of pathogenicity | Epidermolysis bullosa simplex due to plakophilin deficiency, Epidermolysis bullosa simplex due to plakophilin deficiency |
| RS148096263 | Health Risk | Conflicting classifications of pathogenicity | Epidermolysis bullosa simplex due to plakophilin deficiency, Epidermolysis bullosa simplex due to plakophilin deficiency |
| RS150488138 | Health Risk | Conflicting classifications of pathogenicity | Epidermolysis bullosa simplex due to plakophilin deficiency, Epidermolysis bullosa simplex due to plakophilin deficiency |
| RS367893541 | Health Risk | Conflicting classifications of pathogenicity | Epidermolysis bullosa simplex due to plakophilin deficiency, Epidermolysis bullosa simplex due to plakophilin deficiency |
| RS369918615 | Health Risk | Conflicting classifications of pathogenicity | Epidermolysis bullosa simplex due to plakophilin deficiency, Epidermolysis bullosa simplex due to plakophilin deficiency |
| RS374045033 | Health Risk | Conflicting classifications of pathogenicity | Epidermolysis bullosa simplex due to plakophilin deficiency, Epidermolysis bullosa simplex due to plakophilin deficiency |
| RS569564663 | Health Risk | Conflicting classifications of pathogenicity | Epidermolysis bullosa simplex due to plakophilin deficiency, Epidermolysis bullosa simplex due to plakophilin deficiency |
| RS74136386 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS752689001 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1553275192 | Health Risk | Likely pathogenic | Epidermolysis bullosa simplex due to plakophilin deficiency, Epidermolysis bullosa simplex due to plakophilin deficiency |
| RS2102154917 | Health Risk | Likely pathogenic | Epidermolysis bullosa simplex due to plakophilin deficiency, Epidermolysis bullosa simplex due to plakophilin deficiency |
| RS1131691647 | Health Risk | Pathogenic | — |
| RS121918354 | Health Risk | Pathogenic | Epidermolysis bullosa simplex due to plakophilin deficiency, Epidermolysis bullosa simplex due to plakophilin deficiency |
| RS1558193923 | Health Risk | Pathogenic | Epidermolysis bullosa simplex due to plakophilin deficiency, Epidermolysis bullosa simplex due to plakophilin deficiency, Epidermolysis bullosa simplex due to plakophilin deficiency |
| RS1571557821 | Health Risk | Pathogenic | Epidermolysis bullosa simplex due to plakophilin deficiency, Epidermolysis bullosa simplex due to plakophilin deficiency |
| RS1571564381 | Health Risk | Pathogenic | Epidermolysis bullosa simplex due to plakophilin deficiency, Epidermolysis bullosa simplex due to plakophilin deficiency |
| RS2526762309 | Health Risk | Pathogenic | Epidermolysis bullosa simplex due to plakophilin deficiency, Epidermolysis bullosa simplex due to plakophilin deficiency |