Aliases for SERPINI1 Gene
External Ids for SERPINI1 Gene
Previous HGNC Symbols for SERPINI1 Gene
Previous GeneCards Identifiers for SERPINI1 Gene
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, Jul 2008]
GeneCards Summary for SERPINI1 Gene
SERPINI1 (Serpin Family I Member 1) is a Protein Coding gene. Diseases associated with SERPINI1 include Encephalopathy, Familial, With Neuroserpin Inclusion Bodies and Encephalopathy. Among its related pathways are Cell adhesion_Plasmin signaling and Validated targets of C-MYC transcriptional activation. Gene Ontology (GO) annotations related to this gene include serine-type endopeptidase inhibitor activity. An important paralog of this gene is SERPINI2.
UniProtKB/Swiss-Prot for SERPINI1 Gene
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).