ST14
Chr 11ARST14 transmembrane serine protease matriptase
Also known as: ARCI11, CAP3, HAI, MT-SP1, MTSP1, PRSS14, SNC19, TADG15
The protein is an epithelial-derived membrane serine protease that exhibits trypsin-like activity and is involved in terminal differentiation of keratinocytes through prostasin activation and filaggrin processing. Mutations cause congenital ichthyosis, autosomal recessive 11, which presents from birth with abnormal skin keratinization. The gene shows high constraint against loss-of-function variants (LOEUF 0.375) and follows autosomal recessive inheritance.
Primary Disease Associations & Inheritance
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
ClinVar Variant Classifications
386 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 | 4 | 2 | 76 | 0 | 82 |
Likely Pathogenic | 5 | 1 | 6 | 0 | 12 |
VUS | 0 | 119 | 3 | 0 | 122 |
Likely Benign | 0 | 16 | 16 | 42 | 74 |
Benign | 0 | 12 | 36 | 17 | 65 |
Conflicting | — | 3 | |||
| Total | 9 | 150 | 137 | 59 | 358 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
ST14 · 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