PERP
p53 apoptosis effector related to PMP22
Summary
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]
Known Variants20 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1775596006 | 6:138,413,295 | C/T | — | pathogenic |
| rs201454106 | 6:138,413,302 | G/C | — | pathogenic |
| rs1775596924 | 6:138,413,308 | C/T | — | pathogenic |
| rs1775596990 | 6:138,413,309 | C/T | — | pathogenic |
| rs648802 | 6:138,413,333 | G/C | missense variant | — |
| rs541396173 | 6:138,413,369 | A/G | — | uncertain significance |
| rs759496728 | 6:138,413,370 | C/T | — | uncertain significance |
| rs200654686 | 6:138,413,373 | G/A | — | uncertain significance |
| rs2484067 | 6:138,417,415 | T/C | intron variant | — |
| rs2483046820 | 6:138,417,537 | C/A | — | uncertain significance |
| rs61730263 | 6:138,417,552 | G/A | — | benign |
| rs144266393 | 6:138,417,608 | T/C | — | uncertain significance |
| rs545423525 | 6:138,417,616 | G/A | — | uncertain significance |
| rs1556640 | 6:138,426,032 | C/G | — | — |
| rs376957775 | 6:138,428,268 | C/G | — | uncertain significance |
| rs146568280 | 6:138,428,303 | C/T | — | likely benign |
| rs78795891 | 6:138,428,353 | C/A | — | benign |
| rs1238585676 | 6:138,428,378 | C/T | — | uncertain significance |
| rs145663845 | 6:138,428,379 | G/A | — | benign |
| rs79571603 | 6:138,428,408 | C/A | — | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.