EPPK1
Chr 8ADepiplakin 1
Also known as: EPIPL, EPIPL1
Epiplakin is a cytoskeletal linker protein that connects to intermediate filaments and controls their reorganization in response to cellular stress, particularly in keratinocytes and other epithelial cells. Mutations cause palmoplantar keratoderma, epidermolytic, type 1, an autosomal dominant skin disorder characterized by thickening of the palms and soles with epidermolysis. The gene shows very low constraint against loss-of-function variants, suggesting tolerance to such mutations.
Primary Disease Associations & Inheritance
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
The highest-scoring mechanism for this gene is gain-of-function.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
EPPK1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools