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]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| SERPINI1-20-RE | 20 (40 μL) | 200 μL |  |
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| SERPINI1-20-OR | 20 (40 μL) | 200 μL |  |
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| SERPINI1-20-GO | 20 (40 μL) | 200 μL |  |
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| SERPINI1-20-GR | 20 (40 μL) | 200 μL |  |
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| SERPINI1-20-AQ | 20 (40 μL) | 200 μL |  |
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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]
Gene Symbol : SERPINI1
Gene Name : Serpin family I member 1
Chromosome : CHR 3: 167,735,334-167,825,568
Locus : 3q26.1
Alt. Genes : ZNF263
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