alpha 1 Antitrypsin ist ein Gen, das durch das Symbol SERPINA1 kodiert wird. Andere Namen sind: Alpha-1-antitrypsin; Alpha-1 protease inhibitor; Alpha-1-antiproteinase; Serpin A1; SERPINA1; AAT; PI. alpha 1 Antitrypsin hat eine Masse von 46.74kDa, eine Aminosäurelänge von 418, und ist an Alpha-1-antitrypsin deficiency beteiligt.
Wir bieten 39 antikörper gegen alpha 1 Antitrypsin, aufgewachsen in Kaninchen, Maus und Ziege, welche geeignet sind für WB, IHC, ELISA and ICC/IF mit Proben abgeleitet von Human, Maus, Ratte und Schwein.
Gen- und Proteininformationen
UniProt Zusammenfassung
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.
Entrez Zusammenfassung
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.
Gewebespezifität
Ubiquitous. Expressed in leukocytes and plasma.
Rolle bei Krankheiten
Alpha-1-antitrypsin deficiency: 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.
Sequenzähnlichkeiten
Belongs to the serpin family.
Posttranslationale Modifikation
N-glycosylated. Differential glycosylation produces a number of isoforms. N-linked glycan at Asn-107 is alternatively di-antennary, tri-antennary or tetra-antennary. The glycan at Asn-70 is di-antennary with trace amounts of tri-antennary. Glycan at Asn-271 is exclusively di-antennary. Structure of glycans at Asn-70 and Asn-271 is Hex5HexNAc4. The structure of the antennae is Neu5Ac(alpha1-6)Gal(beta1-4)GlcNAc attached to the core structure Man(alpha1-6)[Man(alpha1-3)]Man(beta1-4)GlcNAc(beta1-4)GlcNAc. Some antennae are fucosylated, which forms a Lewis-X determinant.
Zellort
Secreted. Endoplasmic reticulum.
The S and Z allele are not secreted effectively and accumulate intracellularly in the endoplasmic reticulum.
