Gene Symbol | SERPINA3 |
Entrez Gene ID | 12 |
Full Name | serpin family A member 3 |
Synonyms | AACT,ACT,GIG24,GIG25 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Alpha-1-antichymotrypsin deficiency (3); Cerebrovascular disease, occlusive (3) |