Serpin Peptidase Inhibitor, Clade I Member 1 Protein

Background

SERPINI1 (serpin family I member 1) is a gene encoding the neuroserpin protein, a member of the serpin (serine protease inhibitor) superfamily. Unlike many other serpins, neuroserpin is primarily expressed in the central nervous system, where it plays a critical role in regulating proteolytic activity, particularly by inhibiting tissue-type plasminogen activator (tPA). The balance between neuroserpin and tPA is crucial for neural development, synaptic plasticity, and maintaining the integrity of neuronal tissues. SERPINI1 mutations are associated with certain neurodegenerative diseases, notably familial encephalopathy with neuroserpin inclusion bodies (FENIB), a condition characterized by the accumulation of misfolded neuroserpin proteins in neurons. This leads to neurodegeneration, progressive cognitive decline, and other neurological impairments.