What is the role of alpha-1 antitrypsin in the human body, and how does its deficiency lead to a specific disease?

A It is an enzyme that breaks down proteins, and its deficiency leads to cystic fibrosis
B It is an inhibitor of serine proteases, and its deficiency leads to emphysema ✓
C It is a transport protein, and its deficiency leads to anemia
D It is a hormone, and its deficiency leads to diabetes

Explanation

Alpha-1 antitrypsin is a serine protease inhibitor that protects the lungs from damage caused by neutrophil elastase. Its deficiency can lead to emphysema, a type of chronic obstructive pulmonary disease (COPD).

Source

NCBI Bookshelf: Biochemistry, 5th edition
Enzymes in Disease Biochemistry Protease Inhibitors Medium MEDICAL Confidence: high