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. 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. 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.