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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. Note: This description may include information from UniProtKB.
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| Protein type: Membrane protein, anchored; Phosphatase (non-protein); Motility/polarity/chemotaxis; EC 3.1.3.1; Cofactor and Vitamin Metabolism - folate biosynthesis |
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Cellular Component: extracellular space; plasma membrane; integral to membrane
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Molecular Function: pyrophosphatase activity; alkaline phosphatase activity; metal ion binding
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Biological Process: response to antibiotic; response to vitamin D; response to glucocorticoid stimulus; reproductive developmental process; response to lipopolysaccharide; skeletal development
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Reference #:
P05186 (UniProtKB)
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| Alt. Names/Synonyms: Alkaline phosphatase liver/bone/kidney isozyme; alkaline phosphatase, liver/bone/kidney; Alkaline phosphatase, tissue-nonspecific isozyme; alkaline phosphomonoesterase; ALPL; AP-TNAP; APTNAP; FLJ40094; FLJ93059; glycerophosphatase; HOPS; liver/bone/kidney-type alkaline phosphatase; MGC161443; MGC167935; PPBT; tissue-nonspecific alkaline phosphatase; tissue-nonspecific ALP; TNAP; TNSALP |
| Gene Symbols: ALPL |
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Molecular weight: 57,305 Da
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Basal Isoelectric point: 6.19
Predict pI for various phosphorylation states
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