SERPINB8 Chromosome 18
Serpin family B member 8
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What This Gene Does
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]
Gene Info
Gene Group
Serpin peptidase inhibitors
Locus Type
gene with protein product
Location
18q22.1
Ensembl
ENSG00000166401
Associated Conditions (1)
Peeling skin syndrome 5
Key Variants
RS144666367
Conflicting classifications of pathogenicity
Peeling skin syndrome 5, Peeling skin syndrome 5
Health Risk
RS771466710
Conflicting classifications of pathogenicity
Health Risk
RS2511730891
Likely pathogenic
Peeling skin syndrome 5, Peeling skin syndrome 5
Health Risk
RS374612640
Pathogenic
Peeling skin syndrome 5, Peeling skin syndrome 5
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS144666367 | Health Risk | Conflicting classifications of pathogenicity | Peeling skin syndrome 5, Peeling skin syndrome 5 |
| RS771466710 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2511730891 | Health Risk | Likely pathogenic | Peeling skin syndrome 5, Peeling skin syndrome 5 |
| RS374612640 | Health Risk | Pathogenic | Peeling skin syndrome 5, Peeling skin syndrome 5 |