SERPINI1 serpin family I member 1
Gene ID: 5274, updated on 5-Mar-2024Gene type: protein coding
Also known as: PI12; HNS-S1; HNS-S2; neuroserpin
- See all available tests in GTR for this gene
- Go to complete Gene record for SERPINI1
- Go to Variation Viewer for SERPINI1 variants
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, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Familial encephalopathy with neuroserpin inclusion bodies | See labs |
| Generalization of variants identified by genome-wide association studies for electrocardiographic traits in African Americans. GeneReviews: Not available | |
| Many sequence variants affecting diversity of adult human height. GeneReviews: Not available |
Genomic context
- Location:
- 3q26.1
- Sequence:
- Chromosome: 3; NC_000003.12 (167735721..167825569)
- Total number of exons:
- 9
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SERPINI1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- SERPINI1 database
- Variation ViewerRelated Variants
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