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alpl

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Official Full Name
alkaline phosphatase, liver/bone/kidney
Background
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.
Synonyms
ALPL; alkaline phosphatase, liver/bone/kidney; HOPS; alkaline phosphatase, tissue-nonspecific isozyme; TNSALP; glycerophosphatase; tissue-nonspecific ALP; alkaline phosphomonoesterase; liver/bone/kidney-type alkaline phosphatase; alkaline phosphatase live; alkaline phosphatase liver/bone/kidney isozyme; TNAP; APTNAP; AP-TNAP; FLJ40094; FLJ93059; MGC161443; MGC167935; tissue-nonspecific alkaline phosphatase; alp; Akp2; zgc:56672

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