Alkaline Phosphatase ist ein Gen, das durch das Symbol ALPL kodiert wird. Andere Namen sind: Alkaline phosphatase, tissue-nonspecific isozyme; AP-TNAP liver/bone/kidney isozyme; ALPL. Alkaline Phosphatase hat eine Masse von 57.31kDa, eine Aminosäurelänge von 524, und ist an folgenden Krankheiten beteiligt: Hypophosphatasia; Hypophosphatasia childhood type; Hypophosphatasia infantile type.
Wir bieten 36 antikörper gegen Alkaline Phosphatase, aufgewachsen in Kaninchen, Maus und Sheep, welche geeignet sind für WB, IHC, ELISA, ICC/IF, FC, IP and Dot mit Proben abgeleitet von Human, Schwein, Affe, Schaf, Hund, E. coli und Goat.
Gen- und Proteininformationen
UniProt Zusammenfassung
This isozyme plays a key role in skeletal mineralization by regulating levels of diphosphate (PPi).
Entrez Zusammenfassung
There are at least four distinct but related alkaline phosphatases: intestinal, placental, placental-like, and liver/bone/kidney (tissue non-specific). The intestinal alkaline phosphatase gene encodes a digestive brush-border enzyme. This enzyme is a component of the gut mucosal defense system and is thought to function in the detoxification of lipopolysaccharide, and in the prevention of bacterial translocation in the gut.
Rolle bei Krankheiten
Hypophosphatasia: A metabolic bone disease characterized by defective skeletal mineralization and biochemically by deficient activity of the tissue non-specific isoenzyme of alkaline phosphatase. Four forms are distinguished, depending on the age of onset: perinatal, infantile, childhood and adult type. The perinatal form is the most severe and is almost always fatal. The adult form is mild and characterized by recurrent fractures, osteomalacia, rickets, and loss of teeth. Some cases are asymptomatic, while some patients manifest dental features without skeletal manifestations (odontohypophosphatasia).
Hypophosphatasia childhood type: A bone disease characterized by defective skeletal mineralization and biochemically by deficient activity of the tissue non-specific isoenzyme of alkaline phosphatase.
Hypophosphatasia infantile type: A severe bone disease characterized by defective skeletal mineralization and biochemically by deficient activity of the tissue non-specific isoenzyme of alkaline phosphatase. Three more or less distinct types of infantile hypophosphatasia can be identified: (1) type 1 with onset in utero or in early postnatal life, craniostenosis, severe skeletal abnormalities, hypercalcemia, and death in the first year or so of life; (2) type 2 with later, more gradual development of symptoms, moderately severe 'rachitic' skeletal changes and premature loss of teeth; (3) type 3 with no symptoms, the condition being determined on routine studies.
Sequenzähnlichkeiten
Belongs to the alkaline phosphatase family.
Posttranslationale Modifikation
N-glycosylated.
