SERPINI1
Function
Serine protease inhibitor that inhibits plasminogen activators and plasmin but not thrombin (PubMed:11880376, PubMed:19265707, PubMed:19285087, PubMed:26329378, PubMed:9442076). May be involved in the formation or reorganization of synaptic connections as well as for synaptic plasticity in the adult nervous system. May protect neurons from cell damage by tissue-type plasminogen activator (Probable).
Involvement in disease
Encephalopathy, familial, with neuroserpin inclusion bodies
FENIB
A neurodegenerative disease clinically characterized by dementia. Additional features include intellectual decline, psychic seizures, progressive myoclonic epilepsy, and cerebral atrophy. Histologically, it is characterized by the presence of eosinophilic inclusion bodies (called Collins bodies) throughout the deeper layers of the cerebral cortex, leading to neuronal death.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the serpin family.
Tissue Specificity
Detected in brain cortex and hippocampus pyramidal neurons (at protein level) (PubMed:17040209). Detected in cerebrospinal fluid (at protein level) (PubMed:25326458). Predominantly expressed in the brain (PubMed:9070919).
Cellular localization
- Secreted
- Cytoplasmic vesicle
- Secretory vesicle lumen
- Perikaryon
Alternative names
PI12, SERPINI1, Neuroserpin, Peptidase inhibitor 12, Serpin I1, PI-12