PERP Chromosome 6
P53 apoptosis effector related to PMP22
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What This Gene Does
Involved in positive regulation of neutrophil chemotaxis and positive regulation of proteolysis. Predicted to be located in desmosome and plasma membrane. Predicted to be active in cell-cell junction. Implicated in erythrokeratodermia variabilis and mutilating palmoplantar keratoderma with periorificial keratotic plaques. [provided by Alliance of Genome Resources, Jul 2025]
Associated Conditions (2)
Erythrokeratodermia variabilis et progressiva 7
Olmsted syndrome 2
Key Variants
RS1775596006
Pathogenic
Erythrokeratodermia variabilis et progressiva 7, Erythrokeratodermia variabilis et progressiva 7
Health Risk
RS1775596924
Pathogenic
Olmsted syndrome 2, Olmsted syndrome 2
Health Risk
RS1775596990
Pathogenic
Olmsted syndrome 2, Olmsted syndrome 2
Health Risk
RS201454106
Pathogenic
Olmsted syndrome 2, Olmsted syndrome 2, Olmsted syndrome 2
Health Risk
RS769404975
Pathogenic
Erythrokeratodermia variabilis et progressiva 7, Erythrokeratodermia variabilis et progressiva 7
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1775596006 | Health Risk | Pathogenic | Erythrokeratodermia variabilis et progressiva 7, Erythrokeratodermia variabilis et progressiva 7 |
| RS1775596924 | Health Risk | Pathogenic | Olmsted syndrome 2, Olmsted syndrome 2 |
| RS1775596990 | Health Risk | Pathogenic | Olmsted syndrome 2, Olmsted syndrome 2 |
| RS201454106 | Health Risk | Pathogenic | Olmsted syndrome 2, Olmsted syndrome 2, Olmsted syndrome 2 |
| RS769404975 | Health Risk | Pathogenic | Erythrokeratodermia variabilis et progressiva 7, Erythrokeratodermia variabilis et progressiva 7 |