Gene Symbol | ALPL |
Entrez Gene ID | 249 |
Full Name | alkaline phosphatase, liver/bone/kidney |
Synonyms | AP-TNAP,APTNAP,HOPS,TNAP,TNSALP |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Hypophosphatasia, infantile, 241500 (3); Hypophosphatasia, childhood, 241510 (3); Odontohypophosphatasia, 146300 (3); Hypophosphatasia, adult, 146300 (3) |