Gene Symbol | SERPINB8 |
Entrez Gene ID | 5271 |
Full Name | serpin family B member 8 |
Synonyms | C18orf53,CAP2,HMSD,HSMD-v,PI-8,PI8,PSS5 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Peeling skin syndrome 5, 617115 (3) |