SERPINB8 serpin family B member 8
Gene ID: 5271, updated on 17-Jun-2024Gene type: protein coding
Also known as: PI8; CAP2; PI-8; PSS5; C18orf53
- See all available tests in GTR for this gene
- Go to complete Gene record for SERPINB8
- Go to Variation Viewer for SERPINB8 variants
Summary
The protein encoded by this gene is a member of the ov-serpin family of serine protease inhibitors. The encoded protein is produced by platelets and can bind to and inhibit the function of furin, a serine protease involved in platelet functions. In addition, this protein has been found to enhance the mechanical stability of cell-cell adhesion in the skin, and defects in this gene have been associated with an autosomal-recessive form of exfoliative ichthyosis. [provided by RefSeq, Jan 2017]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genome-wide association studies identify CHRNA5/3 and HTR4 in the development of airflow obstruction. GeneReviews: Not available | |
| Peeling skin syndrome 5 | See labs |
Genomic context
- Location:
- 18q22.1
- Sequence:
- Chromosome: 18; NC_000018.10 (63970081..64019779)
- Total number of exons:
- 10
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SERPINB8 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
- Variation ViewerRelated Variants
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