ALPL

This gene encodes a member of the alkaline phosphatase family of proteins. There are at least four distinct but related alkaline phosphatases: intestinal, placental, placental-like, and liver/bone/kidney (tissue non-specific). The first three are located together on chromosome 2, while the tissue non-specific form is located on chromosome 1. The product of this gene is a membrane bound glycosylated enzyme that is not expressed in any particular tissue and is, therefore, referred to as the tissue-nonspecific form of the enzyme. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature enzyme. This enzyme may play a role in bone mineralization. Mutations in this gene have been linked to hypophosphatasia, a disorder that is characterized by hypercalcemia and skeletal defects. [provided by RefSeq, Oct 2015]

Alkaline Phosphatase, Liver/Bone/Kidney

This isozyme plays a key role in skeletal mineralization by regulating levels of diphosphate (PPi).

Cellular response to organic cyclic compound Source: Ensembl
Cementum mineralization Source: Ensembl
Dephosphorylation Source: GO_Central
Developmental process involved in reproduction Source: Ensembl
Endochondral ossification Source: Ensembl
Osteoblast differentiation Source: UniProtKB
Response to antibiotic Source: Ensembl
Response to glucocorticoid Source: Ensembl
Response to lipopolysaccharide Source: Ensembl
Response to vitamin D Source: BHF-UCL
Skeletal system development Source: ProtInc

Cell membrane

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).
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.
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.

N-glycosylated.