Gene Symbol | SERPINA1 |
Entrez Gene ID | 5265 |
Full Name | serpin family A member 1 |
Synonyms | A1A,A1AT,AAT,PI,PI1,PRO2275,alpha1AT,nNIF |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | The protein encoded by this gene is secreted and is a serine protease inhibitor whose targets include elastase, plasmin, thrombin, trypsin, chymotrypsin, and plasminogen activator. Defects in this gene can cause emphysema or liver disease. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | Emphysema due to AAT deficiency, 613490 (3); Emphysema-cirrhosis, due to AAT deficiency, 613490 (3); Hemorrhagic diathesis due to antithrombin Pittsburgh, 613490 (3); {Pulmonary disease, chronic obstructive, susceptibility to}, 606963 (1) |