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Protein Page:
ALPL (human)

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.
Protein type: Cofactor and Vitamin Metabolism - folate biosynthesis; EC; Membrane protein, GPI anchor; Motility/polarity/chemotaxis; Phosphatase (non-protein)
Chromosomal Location of Human Ortholog: 1p36.12
Cellular Component: membrane
Molecular Function: protein binding; pyrophosphatase activity
Biological Process: osteoblast differentiation; response to vitamin D; skeletal development
Disease: Hypophosphatasia, Adult; Hypophosphatasia, Childhood; Hypophosphatasia, Infantile
Reference #:  P05186 (UniProtKB)
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
Molecular weight: 57,305 Da
Basal Isoelectric point: 6.19  Predict pI for various phosphorylation states
Select Structure to View Below


Protein Structure Not Found.

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