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 Alpha-1-Antichymotrypsin Deficiency and Malignant Histiocytosis. Among its related pathways are Platelet activation, signaling and aggregation and Development_Thrombopoetin signaling via JAK-STAT pathway. GO annotations related to this gene include serine-type endopeptidase inhibitor activity. An important paralog of this gene is ENSG00000273259.
UniProtKB/Swiss-Prot 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.