SERPINB8
Chr 18ARserpin family B member 8
Also known as: C18orf53, CAP2, PI-8, PI8, PSS5
SERPINB8 encodes a serine protease inhibitor that enhances mechanical stability of desmosome-mediated cell-cell adhesion in the skin. Mutations cause peeling skin syndrome 5, an autosomal recessive disorder characterized by superficial skin peeling. The gene shows extremely low constraint to loss-of-function variation (pLI near 0), consistent with its recessive inheritance pattern.
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
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
219 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 1 | 91 | 0 | 92 |
Likely Pathogenic | 1 | 1 | 7 | 0 | 9 |
VUS | 2 | 53 | 15 | 0 | 70 |
Likely Benign | 0 | 5 | 5 | 10 | 20 |
Benign | 0 | 6 | 12 | 3 | 21 |
Conflicting | — | 2 | |||
| Total | 3 | 66 | 130 | 13 | 214 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
SERPINB8 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
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