{"symbol":"SERPINA3","synonyms":["GIG25","GIG24","AACT"],"name":"serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3","description":"The protein encoded by this gene is a member of the serpin family of proteins, a group of proteins that inhibit serine proteases. This gene is one in a cluster of serpin genes located on the q arm of chromosome 14. Polymorphisms in this protein appear to be tissue specific and influence protease targeting. Variations in this protein\u0027s sequence have been implicated in Alzheimer\u0027s 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, Jun 2020]","ncbiEntrezGeneId":12,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/12","proteins":[{"symbol":"AACT_HUMAN","href":"/api/1.0/protein/AACT_HUMAN"}],"hgncRootFamilies":[{"name":"Serpin peptidase inhibitors (SERPIN)","href":"/api/1.0/gene_family/Serpin+peptidase+inhibitors+%28SERPIN%29"}]}