PI1
MIM.107400 14q32.1
Alpha-1-antitrypsin is a protease inhibitor, deficiency of which is associated with emphysema and liver disease. The protein is encoded by a gene (PI1) located on the distal long arm of chromosome 14.
Pathology
alpha-1-antitrypsin deficiency (PI1 deficiency)
See also
serpins
- serpinopathies
conformational diseases