Alkaline Phosphatase Liver/Bone/Kidney (ALPL) Mouse Active Protein

This gene encodes a preproprotein that is proteolytically cleaved to yield a signal peptide and a proproptein that is subsequently processed to generate the active mature peptide. The encoded protein is a membrane-bound glycosylated enzyme that catalyzes the hydrolysis of phosphate esters at alkaline pH. The mature peptide maintains the ratio of inorganic phosphate to inorganic pyrophosphate required for bone mineralization. Mice that lack this enzyme show symptoms of osteomalacia, softening of the bones. In humans, mutations in this gene are associated with hypophosphatasia, an inherited metabolic bone disease in which deficiency of this enzyme inhibits bone mineralization leading to skeletal defects. Mutations in the mouse gene mirror the symptoms of human hypophosphatasia. A pseudogene of this gene is present on chromosome X. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]

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; EC 3.1.3.1; Membrane protein, GPI anchor; Motility/polarity/chemotaxis; Phosphatase (non-protein)

Chromosomal Location of Human Ortholog: 4 D3|4 70.02 cM

Cellular Component: extracellular space; membrane; plasma membrane; proteinaceous extracellular matrix

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

Biological Process: dephosphorylation; endochondral ossification; osteoblast differentiation; reproductive developmental process; response to antibiotic; response to glucocorticoid stimulus