PRSS12 Chromosome 4
Serine protease 12
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What This Gene Does
This gene encodes a member of the trypsin family of serine proteases and contains a signal peptide, a proline-rich region, a Kringle domain, four scavenger receptor cysteine-rich domains, and a trypsin-like serine protease domain. The protein, sometimes referred to as neurotrypsin or motopsin, is secreted from neuronal cells and localizes to the synaptic cleft. Studies in mice show that this protein cleaves a protein, agrin, that is important for the formation and maintenance of exitatory synapses. Defects in this gene cause a form of autosomal recessive cognitive impairment (MRT1). [provided by RefSeq, Jul 2017]
Gene Info
Gene Group
"Serine proteases|Scavenger receptor cysteine rich domain containing|Kringle domain containing"
Locus Type
gene with protein product
Location
4q26
Ensembl
ENSG00000164099
Associated Conditions (3)
Intellectual disability
autosomal recessive 1
PRSS12-related disorder
Key Variants
RS12505679
Conflicting classifications of pathogenicity
Intellectual disability, autosomal recessive 1, Intellectual disability
Health Risk
RS144866250
Conflicting classifications of pathogenicity
Intellectual disability, autosomal recessive 1, Intellectual disability
Health Risk
RS145151396
Conflicting classifications of pathogenicity
Intellectual disability, autosomal recessive 1, PRSS12-related disorder
Health Risk
RS199996930
Conflicting classifications of pathogenicity
Health Risk
RS560855452
Conflicting classifications of pathogenicity
Intellectual disability, autosomal recessive 1, Intellectual disability
Health Risk
RS752784904
Conflicting classifications of pathogenicity
Health Risk
RS781361976
Conflicting classifications of pathogenicity
Intellectual disability, autosomal recessive 1, Intellectual disability
Health Risk
RS760638778
Likely pathogenic
Intellectual disability, autosomal recessive 1, Intellectual disability
Health Risk
All Variants (8)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS12505679 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, autosomal recessive 1, Intellectual disability |
| RS144866250 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, autosomal recessive 1, Intellectual disability |
| RS145151396 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, autosomal recessive 1, PRSS12-related disorder |
| RS199996930 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS560855452 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, autosomal recessive 1, Intellectual disability |
| RS752784904 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS781361976 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, autosomal recessive 1, Intellectual disability |
| RS760638778 | Health Risk | Likely pathogenic | Intellectual disability, autosomal recessive 1, Intellectual disability |