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MIRAGE
alpha 1-antitrypsin deficiency
Summary
- Synonym
-
- AAT deficiency
- Definition
- A plasma protein metabolism disease that has_material_basis_in defective production of the protease inhibitor alpha 1-antitrypsin (A1AT), leading to decreased A1AT activity in the blood and lungs, and deposition of excessive abnormal A1AT protein in liver cells.
- Super Class
- plasma protein metabolism disease
External Links
- Disease Ontology
- DOID:13372
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- GARD
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P01009 | Alpha-1-antitrypsin |
