Aliases for SERPINB8 Gene
External Ids for SERPINB8 Gene
Previous HGNC Symbols for SERPINB8 Gene
Previous GeneCards Identifiers for SERPINB8 Gene
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]
GeneCards Summary for SERPINB8 Gene
SERPINB8 (Serpin Family B Member 8) is a Protein Coding gene. Diseases associated with SERPINB8 include Peeling Skin Syndrome 5 and Exfoliative Ichthyosis. Among its related pathways are CFTR-dependent regulation of ion channels in Airway Epithelium (norm and CF) and Response to elevated platelet cytosolic Ca2+. Gene Ontology (GO) annotations related to this gene include serine-type endopeptidase inhibitor activity. An important paralog of this gene is SERPINB6.
UniProtKB/Swiss-Prot Summary for SERPINB8 Gene
Has an important role in epithelial desmosome-mediated cell-cell adhesion.