FEATURES

FAMILY

DESCRIPTION

Also known as A1AT_HUMAN, SERPINA1, AAT, PI. Inhibitor of serine proteases. Its primary target is elastase, but it also has a moderate affinity for plasmin and thrombin. Irreversibly inhibits trypsin, chymotrypsin and plasminogen activator. The aberrant form inhibits insulin-induced NO synthesis in platelets, decreases coagulation time and has proteolytic activity against insulin and plasmin., reversible chymotrypsin inhibitor. It also inhibits elastase, but not trypsin. Its major physiological function is the protection of the lower respiratory tract against proteolytic destruction by human leukocyte elastase (HLE). The variants S and Z interact with CANX AND PDIA3. Interacts with CELA2A (PubMed:31358993).

EXTERNAL LINKS

SERPINA1

Mutations

Mutation(s) distribution

Mutations table