Human genes for alpha 1-antitrypsin deficiency
Alpha 1-antitrypsin deficiency [DOID:13372]
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.
Synonyms: alpha 1-antitrypsin deficiency, alpha 1antitrypsin deficiency, DOID:13372, AAT deficiency, AAT deficiencies
Linkouts: OMIM