Aliases for ALPL Gene
External Ids for ALPL Gene
Previous Symbols for ALPL Gene
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. [provided by RefSeq, Apr 2010]
GeneCards Summary for ALPL Gene
ALPL (Alkaline Phosphatase, Liver/Bone/Kidney) is a Protein Coding gene. Diseases associated with ALPL include hypophosphatasia, childhood and hypophosphatasia, infantile. Among its related pathways are Endochondral Ossification and Metabolism. GO annotations related to this gene include alkaline phosphatase activity and pyrophosphatase activity. An important paralog of this gene is ALPP.
UniProtKB/Swiss-Prot for ALPL Gene
This isozyme may play a role in skeletal mineralization