SERPINI1 Chromosome 3
Serpin family I member 1
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What This Gene Does
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 Info
Gene Group
Serpin peptidase inhibitors
Locus Type
gene with protein product
Location
3q26.1
Ensembl
ENSG00000163536
Associated Conditions (4)
Familial encephalopathy with neuroserpin inclusion bodies
Inborn genetic diseases
SERPINI1-related disorder
Abnormality of the nervous system
Key Variants
RS150681002
Conflicting classifications of pathogenicity
Familial encephalopathy with neuroserpin inclusion bodies, Inborn genetic diseases, Familial encephalopathy with neuroserpin inclusion bodies
Health Risk
RS372678518
Conflicting classifications of pathogenicity
Familial encephalopathy with neuroserpin inclusion bodies, Inborn genetic diseases, Familial encephalopathy with neuroserpin inclusion bodies
Health Risk
RS759360650
Conflicting classifications of pathogenicity
Familial encephalopathy with neuroserpin inclusion bodies, Familial encephalopathy with neuroserpin inclusion bodies
Health Risk
RS767144751
Conflicting classifications of pathogenicity
Familial encephalopathy with neuroserpin inclusion bodies, Inborn genetic diseases, Familial encephalopathy with neuroserpin inclusion bodies
Health Risk
RS774989939
Conflicting classifications of pathogenicity
Familial encephalopathy with neuroserpin inclusion bodies, SERPINI1-related disorder, Familial encephalopathy with neuroserpin inclusion bodies
Health Risk
RS779353952
Conflicting classifications of pathogenicity
Familial encephalopathy with neuroserpin inclusion bodies, Inborn genetic diseases, Familial encephalopathy with neuroserpin inclusion bodies
Health Risk
RS780236670
Conflicting classifications of pathogenicity
Familial encephalopathy with neuroserpin inclusion bodies, Inborn genetic diseases, Familial encephalopathy with neuroserpin inclusion bodies
Health Risk
RS781486255
Conflicting classifications of pathogenicity
Familial encephalopathy with neuroserpin inclusion bodies, Familial encephalopathy with neuroserpin inclusion bodies
Health Risk
RS121909051
Pathogenic
Familial encephalopathy with neuroserpin inclusion bodies, Familial encephalopathy with neuroserpin inclusion bodies
Health Risk
RS121909052
Pathogenic
Familial encephalopathy with neuroserpin inclusion bodies, Familial encephalopathy with neuroserpin inclusion bodies
Health Risk
RS121909054
Pathogenic
Familial encephalopathy with neuroserpin inclusion bodies, Familial encephalopathy with neuroserpin inclusion bodies, Familial encephalopathy with neuroserpin inclusion bodies
Health Risk
RS1577418477
Pathogenic
Familial encephalopathy with neuroserpin inclusion bodies, Familial encephalopathy with neuroserpin inclusion bodies
Health Risk
All Variants (13)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS150681002 | Health Risk | Conflicting classifications of pathogenicity | Familial encephalopathy with neuroserpin inclusion bodies, Inborn genetic diseases, Familial encephalopathy with neuroserpin inclusion bodies |
| RS372678518 | Health Risk | Conflicting classifications of pathogenicity | Familial encephalopathy with neuroserpin inclusion bodies, Inborn genetic diseases, Familial encephalopathy with neuroserpin inclusion bodies |
| RS759360650 | Health Risk | Conflicting classifications of pathogenicity | Familial encephalopathy with neuroserpin inclusion bodies, Familial encephalopathy with neuroserpin inclusion bodies |
| RS767144751 | Health Risk | Conflicting classifications of pathogenicity | Familial encephalopathy with neuroserpin inclusion bodies, Inborn genetic diseases, Familial encephalopathy with neuroserpin inclusion bodies |
| RS774989939 | Health Risk | Conflicting classifications of pathogenicity | Familial encephalopathy with neuroserpin inclusion bodies, SERPINI1-related disorder, Familial encephalopathy with neuroserpin inclusion bodies |
| RS779353952 | Health Risk | Conflicting classifications of pathogenicity | Familial encephalopathy with neuroserpin inclusion bodies, Inborn genetic diseases, Familial encephalopathy with neuroserpin inclusion bodies |
| RS780236670 | Health Risk | Conflicting classifications of pathogenicity | Familial encephalopathy with neuroserpin inclusion bodies, Inborn genetic diseases, Familial encephalopathy with neuroserpin inclusion bodies |
| RS781486255 | Health Risk | Conflicting classifications of pathogenicity | Familial encephalopathy with neuroserpin inclusion bodies, Familial encephalopathy with neuroserpin inclusion bodies |
| RS121909051 | Health Risk | Pathogenic | Familial encephalopathy with neuroserpin inclusion bodies, Familial encephalopathy with neuroserpin inclusion bodies |
| RS121909052 | Health Risk | Pathogenic | Familial encephalopathy with neuroserpin inclusion bodies, Familial encephalopathy with neuroserpin inclusion bodies |
| RS121909054 | Health Risk | Pathogenic | Familial encephalopathy with neuroserpin inclusion bodies, Familial encephalopathy with neuroserpin inclusion bodies, Familial encephalopathy with neuroserpin inclusion bodies |
| RS1577418477 | Health Risk | Pathogenic | Familial encephalopathy with neuroserpin inclusion bodies, Familial encephalopathy with neuroserpin inclusion bodies |
| RS121909053 | Health Risk | Pathogenic/Likely pathogenic | Familial encephalopathy with neuroserpin inclusion bodies, Abnormality of the nervous system, Familial encephalopathy with neuroserpin inclusion bodies |