ALPL Recombinant Rabbit mAb

ALPL is a glycosylated homodimeric membrane protein anchored to the cell membrane via glycosylphosphatidylinositol (GPI), and can also localize to the mitochondrial intermembrane space. The core function of this enzyme is to hydrolyze a variety of substrates including pyrophosphate (PPi), pyridoxal-5'-phosphate (PLP), and phosphocreatine, playing a critical role in bone and tooth mineralization—by degrading PPi, which acts as a mineralization inhibitor, it provides the necessary phosphate for hydroxyapatite crystal formation, and its dephosphorylation of osteopontin also facilitates this process. In addition, TNSALP is involved in cerebral vitamin B6 transport, the generation of P2 receptor ligands, and the regulation of adaptive thermogenesis in brown adipose tissue via creatine-mediated futile cycling. Pathogenic mutations in this gene cause hypophosphatasia, a hereditary disorder characterized by defective mineralization of bones and teeth, with clinical manifestations ranging from severe skeletal deformities and hypercalcemia in infancy to recurrent fractures and premature tooth loss in adulthood, depending on the residual enzyme activity levels.