| Background | Alkaline Phosphatase, Tissue-Nonspecific Isozyme (ALPL) is a cell membrane protein which belongs to the alkaline phosphatase family. There are at least four distinct but related alkaline phosphatases in humans: intestinal AP (IAP), placental AP(PLAP), germ cell AP (GCAP) and their genes are clustered on chromosome 2, tissue-nonspecific isozyme (TNAP) which gene is located on chromosome 1. Alkaline phosphatases (APs) are dimeric enzymes, it catalyze the hydrolysis of phosphomonoesters with release of inorganic phosphate. The native ALPL is a glycosylated homodimer attached to the membrane through a GPI-anchor. This isozyme may play a role in skeletal mineralization. Mutations in ALPL gene have been linked directly to different forms of hypophosphatasia,characterized by poorly mineralized cartilage and bones, and this disorder can vary depending on the specific mutation since this determines age of onset and severity of symptoms. |
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