This isozyme plays a key role in skeletal mineralization by regulating levels of diphosphate (PPi).
Hypophosphatasia
HOPS
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).
None
The disease is caused by variants affecting the gene represented in this entry.
Hypophosphatasia childhood type
HOPSC
A bone disease characterized by defective skeletal mineralization and biochemically by deficient activity of the tissue non-specific isoenzyme of alkaline phosphatase.
None
The disease is caused by variants affecting the gene represented in this entry.
Hypophosphatasia infantile type
HOPSI
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.
None
The disease is caused by variants affecting the gene represented in this entry.
N-glycosylated.
Belongs to the alkaline phosphatase family.
Proteins
57305Da
We found 21 products in 3 categories
ab305306
Anti-Alkaline Phosphatase antibody [EPR27506-72] (BSA and Azide free)
ab252640
Anti-Alkaline Phosphatase antibody [EPR20428-111] - BSA and Azide free (Detector)