Aliases for SERPINA3 Gene
External Ids for SERPINA3 Gene
Previous HGNC Symbols for SERPINA3 Gene
Previous GeneCards Identifiers for SERPINA3 Gene
The protein encoded by this gene is a plasma protease inhibitor and member of the serine protease inhibitor class. Polymorphisms in this protein appear to be tissue specific and influence protease targeting. Variations in this protein's sequence have been implicated in Alzheimer's disease, and deficiency of this protein has been associated with liver disease. Mutations have been identified in patients with Parkinson disease and chronic obstructive pulmonary disease. [provided by RefSeq, Jul 2008]
GeneCards Summary for SERPINA3 Gene
SERPINA3 (Serpin Family A Member 3) is a Protein Coding gene. Diseases associated with SERPINA3 include Malignant Fibrous Histiocytoma and Alpha-1-Antitrypsin Deficiency. Among its related pathways are Folate Metabolism 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 SERPINA9.
UniProtKB/Swiss-Prot Summary for SERPINA3 Gene
Although its physiological function is unclear, it can inhibit neutrophil cathepsin G and mast cell chymase, both of which can convert angiotensin-1 to the active angiotensin-2.