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Neuroserpin is 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.
Gene Name: | serpin peptidase inhibitor, clade I (neuroserpin), member 1 |
Synonyms: | SERPINI1, Neuroserpin, Peptidase inhibitor 12, PI12, Serpin I1, PI-12, Protease inhibitor 12 |
Target Sequences: | NM_005025 NP_005016.1 Q99574 |
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