Alkaline Phosphatase (ALPL) Assay Kit for General

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. The exact physiological function of the alkaline phosphatases is not known. A proposed function of this form of the enzyme is matrix mineralization; however, mice that lack a functional form of this enzyme show normal skeletal development. This enzyme has been linked directly to hypophosphatasia, a disorder that is characterized by hypercalcemia and includes skeletal defects. The character of this disorder can vary, however, depending on the specific mutation since this determines age of onset and severity of symptoms. Alternatively spliced transcript variants have been described. [provided by RefSeq, Apr 2010]

ALPL: This isozyme may play a role in skeletal mineralization. Defects in ALPL are a cause of hypophosphatasia (HOPS). HOPS is an inherited metabolic bone disease characterized by defective skeletal mineralization. Four hypophosphatasia 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. Patients with only premature loss of deciduous teeth, but with no bone disease are regarded as having odontohypophosphatasia (odonto). Defects in ALPL are a cause of hypophosphatasia childhood type (HOPSC). Defects in ALPL are a cause of hypophosphatasia infantile type (HOPSI). Belongs to the alkaline phosphatase family. 3 isoforms of the human protein are produced by alternative splicing.

Protein type: Cofactor and Vitamin Metabolism - folate biosynthesis; Motility/polarity/chemotaxis; EC 3.1.3.1; Membrane protein, GPI anchor; Phosphatase (non-protein)

Chromosomal Location of Human Ortholog: 1p36.12

Cellular Component: extracellular matrix; extracellular space; membrane; integral to membrane; plasma membrane

Molecular Function: protein binding; pyrophosphatase activity; alkaline phosphatase activity; metal ion binding

Biological Process: response to antibiotic; osteoblast differentiation; response to vitamin D; dephosphorylation; response to glucocorticoid stimulus; reproductive developmental process; response to lipopolysaccharide; skeletal development; endochondral ossification

Disease: Hypophosphatasia, Infantile; Hypophosphatasia, Adult; Hypophosphatasia, Childhood