PRSS12: Serine Protease 12 (Neurotrypsin)
A key gene in neurotrypsin function, associated with intellectual disability and potential roles in synaptic plasticity.
Gene Information Card
| Symbol | PRSS12 |
|---|---|
| Full Name | Serine Protease 12 (Neurotrypsin) |
| Gene Type | Protein coding |
| Chromosomal Location | 4q26 |
| NCBI Gene ID | 8492 ncbi.nlm.nih.gov/gene/8492 |
| Ensembl ID | ENSG00000164023 |
| UniProt ID | P56730 |
| OMIM ID | 606709 |
| HGNC ID | 9477 |
| Aliases | MT-SP1, neurotrypsin, motopsin |
Description
PRSS12 encodes neurotrypsin, a mosaic serine protease predominantly expressed in the nervous system. It contains kringle, scavenger receptor cysteine-rich, and protease domains, and is involved in synaptic plasticity, neurite outgrowth, and proteolytic processing of extracellular matrix components. Mutations in PRSS12 cause autosomal recessive intellectual disability (MRT1).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Intellectual disability, autosomal recessive 1 (MRT1) | Loss-of-function mutations in PRSS12 impair neurotrypsin activity, disrupting synaptic maturation and plasticity. | OMIM #249600; ClinVar; multiple case studies |
| Non-syndromic intellectual disability | Homozygous or compound heterozygous mutations lead to cognitive impairment without other major anomalies. | OMIM; PubMed PMID: 11971879 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebral cortex) | 2.3 | Low |
| Brain (cerebellum) | 1.8 | Low |
| Testis | 0.5 | Not detected |
| Heart | 0.1 | Not detected |
| Liver | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 1.5 | Neuronal model; low expression |
| U-87 MG (glioblastoma) | 0.8 | Low expression |
| HEK293 (embryonic kidney) | 0.0 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.934C>T (p.Arg312*) | Nonsense | Rare | Loss of function; truncation of protease domain |
| c.1250G>A (p.Arg417Gln) | Missense | Rare | Reduced proteolytic activity |
| c.1681C>T (p.Arg561Trp) | Missense | Rare | Impaired protein folding and secretion |
Mutation functional classification
Loss of Function (LOF)
Nonsense and missense mutations (e.g., p.Arg312*, p.Arg417Gln) reduce or abolish neurotrypsin proteolytic activity, leading to intellectual disability.
Gain of Function (GOF)
No gain-of-function mutations reported in PRSS12.
Dominant Negative (DN)
No dominant-negative mutations reported; inheritance is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • serine-type endopeptidase activity | • proteolysis |
| • synaptic plasticity | • extracellular matrix organization |
| • nervous system development |
Pathways
• Proteolytic processing of agrin (synaptic basal lamina)
• Extracellular matrix remodeling in the CNS
Protein Summary
Neurotrypsin (PRSS12) is a secreted serine protease with a multidomain structure including a kringle domain, a scavenger receptor cysteine-rich domain, and a trypsin-like protease domain. It is primarily expressed in neurons and plays a critical role in synaptic plasticity by cleaving extracellular matrix components such as agrin. Loss of function leads to autosomal recessive intellectual disability.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PRSS12 Knockout HEK293 Cell Line | EDJ-KQ6254 | Human | 8492 | Details Get a Quote |
| PRSS12 Knockout HCT 116 Cell Line | EDJ-KQ30128 | Human | 8492 | Details Get a Quote |
| PRSS12 Knockout HeLa Cell Line | EDJ-KQ30129 | Human | 8492 | Details Get a Quote |
| PRSS12 Knockout A-549 Cell Line | EDJ-KQ63406 | Human | 8492 | Details Get a Quote |
