Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
LM-GlycoRepo
Repository for lectin-assisted multimodality data
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 462 | SERPINC1 | serpin family C member 1 | |
| 1992 | SERPINB1 | serpin family B member 1 | |
| 5265 | SERPINA1 | serpin family A member 1 | |
| 5270 | SERPINE2 | serpin family E member 2 | |
| 5274 | SERPINI1 | serpin family I member 1 | |
| 5276 | SERPINI2 | serpin family I member 2 | |
| 84447 | SYVN1 | synoviolin 1 | |
| 145264 | SERPINA12 | serpin family A member 12 |
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 20700 | Serpina1a | serine (or cysteine) peptidase inhibitor, clade A, member 1A | |
| 20701 | Serpina1b | serine (or cysteine) preptidase inhibitor, clade A, member 1B | |
| 20702 | Serpina1c | serine (or cysteine) peptidase inhibitor, clade A, member 1C | |
| 20703 | Serpina1d | serine (or cysteine) peptidase inhibitor, clade A, member 1D | |
| 20704 | Serpina1e | serine (or cysteine) peptidase inhibitor, clade A, member 1E | |
| 20720 | Serpine2 | serine (or cysteine) peptidase inhibitor, clade E, member 2 | |
| 67931 | Serpini2 | serine (or cysteine) peptidase inhibitor, clade I, member 2 |
