| Entrez gene ID | | 5274 |
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| Official gene symbol | | SERPINI1 |
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| Full name | | serpin peptidase inhibitor, clade I (neuroserpin), member 1 |
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| Aliases | | ,DKFZp781N13156,PI12,neuroserpin, |
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| Gene summary | | 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] |
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| Location | | Chromosome: 3 Locus: 3q26.1 |
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| Gene position | | 167453432 - 167543357 Map Viewer |
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| Gene orientation | | plus |
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| Gene size | | 89926 bp |
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| Gene sequence |
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| OMIM ID | | 602445 |
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