基因名:
ALPL
产品别名:
AP-TNAP; APTNAP; HOPS; HPPA; HPPC; HPPI; HPPO; TNALP; TNAP; TNS-ALP; TNSALP; ALPL; alkaline phosphatase, biomineralization associated; alkaline phosphatase, biomineralization associated; alkaline phosphatase, tissue-nonspecific isozyme; alkaline phosphatase liver/bone/kidney isozyme; alkaline phosphatase, liver/bone/kidney; liver/bone/kidney-type alkaline phosphatase; phosphoamidase; phosphocreatine phosphatase; tissue non-specific alkaline phosphatase; tissue-nonspecific ALP; 碱性磷酸酶(组织非特异性); 非组织特异性碱性磷酸酶(ALPL); 骨碱性磷酸酶;
背景信息:
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.