Products

Fluorescent In Situ Hybridization (Cell)

Entrez GeneID

Gene Name

ALPL

Gene Alias

AP-TNAP, FLJ40094, FLJ93059, HOPS, MGC161443, MGC167935, TNAP, TNSALP

Gene Description

alkaline phosphatase, liver/bone/kidney

Omim ID

Gene Ontology

Gene Summary

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, which encode the same protein, have been identified for this gene. [provided by RefSeq

Other Designations

OTTHUMP00000002971|OTTHUMP00000002972|alkaline phosphatase, tissue-nonspecific isozyme|alkaline phosphomonoesterase|glycerophosphatase|liver/bone/kidney-type alkaline phosphatase|tissue non-specific alkaline phosphatase|tissue-nonspecific ALP