{"symbol":"ALPL","synonyms":["TNAP","APTNAP","TNALP","AP-TNAP","HOPS","TNSALP"],"name":"alkaline phosphatase, liver/bone/kidney","description":"This gene encodes a member of the alkaline phosphatase family of proteins. 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. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature enzyme. This enzyme may play a role in bone mineralization. Mutations in this gene have been linked to hypophosphatasia, a disorder that is characterized by hypercalcemia and skeletal defects. [provided by RefSeq, Oct 2015]","ncbiEntrezGeneId":249,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/249","proteins":[{"symbol":"PPBT_HUMAN","href":"/api/1.0/protein/PPBT_HUMAN"}],"hgncRootFamilies":[]}