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.
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Protein Aliases: DKFZp781N13156; Neuroserpin; Peptidase inhibitor 12; PI-12; serine (or cysteine) proteinase inhibitor, clade I (neuroserpin), member 1; Serpin I1; serpin peptidase inhibitor clade I member 1; serpin peptidase inhibitor, clade I (neuroserpin), member 1
Gene Aliases: neuroserpin; PI12; SERPINI1
UniProt ID: (Human) Q99574
Entrez Gene ID: (Human) 5274
Molecular Function: protease inhibitor