PRSS12
Chr 4ARserine protease 12
Also known as: BSSP-3, BSSP3, MRT1
The protein is a secreted serine protease (neurotrypsin) that cleaves agrin in the synaptic cleft to regulate excitatory synapse formation and maintenance, contributing to neuronal plasticity and learning/memory processes. Mutations cause autosomal recessive intellectual developmental disorder (MRT1). The gene shows very low constraint against loss-of-function variants (pLI near zero), which is consistent with its recessive inheritance pattern.
Primary Disease Associations & Inheritance
Limited evidence — not for standalone diagnostic reporting
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
PRSS12 · 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