SERPINI1

This gene encodes a member of the serpin superfamily of serine proteinase inhibitors. The protein is primarily secreted by axons in the brain, and preferentially reacts with and inhibits tissue-type plasminogen activator. It is thought to play a role in the regulation of axonal growth and the development of synaptic plasticity. Mutations in this gene result in familial encephalopathy with neuroserpin inclusion bodies (FENIB), which is a dominantly inherited form of familial encephalopathy and epilepsy characterized by the accumulation of mutant neuroserpin polymers. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq]

serpin peptidase inhibitor, clade I (neuroserpin), member 1

Serine protease inhibitor that inhibits plasminogen activators and plasmin but not thrombin (PubMed:9442076, PubMed:26329378, PubMed:19265707, PubMed:19285087, PubMed:11880376).
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).

Biological Process central nervous system developmentManual Assertion Based On ExperimentTAS:ProtInc
Biological Process negative regulation of endopeptidase activityManual Assertion Based On ExperimentIBA:GO_Central
Biological Process peripheral nervous system developmentManual Assertion Based On ExperimentTAS:ProtInc
Biological Process positive regulation of neuron projection developmentISS:ARUK-UCL
Biological Process regulation of cell adhesionIEA:Ensembl

Secreted
Cytoplasmic vesicle, secretory vesicle lumen

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.