AAT Antibody – Rabbit Polyclonal

The protein encoded by this gene is secreted and is a serine protease inhibitor whose targets include elastase, plasmin, thrombin, trypsin, chymotrypsin, and plasminogen activator. Defects in this gene can cause emphysema or liver disease. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]

SERPINA1: 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. Defects in SERPINA1 are the cause of alpha-1-antitrypsin deficiency (A1ATD). A disorder whose most common manifestation is emphysema, which becomes evident by the third to fourth decade. A less common manifestation of the deficiency is liver disease, which occurs in children and adults, and may result in cirrhosis and liver failure. Environmental factors, particularly cigarette smoking, greatly increase the risk of emphysema at an earlier age. Belongs to the serpin family. 3 isoforms of the human protein are produced by alternative splicing.

Protein type: Inhibitor; Secreted, signal peptide; Secreted

Chromosomal Location of Human Ortholog: 14q32.1

Cellular Component: Golgi apparatus; extracellular space; proteinaceous extracellular matrix; endoplasmic reticulum; extracellular region

Molecular Function: serine-type endopeptidase inhibitor activity; identical protein binding; protein binding; protease binding; glycoprotein binding

Biological Process: platelet activation; response to chromate; platelet degranulation; response to triglyceride; response to cytokine stimulus; response to lead ion; response to hypoxia; response to methanol; acute-phase response; response to lipopolysaccharide; blood coagulation; response to estradiol stimulus

Disease: Alpha-1-antitrypsin Deficiency; Pulmonary Disease, Chronic Obstructive