Disease:Defects in DMP1 are the cause of autosomal recessive hypophosphatemic rickets (ARHR) [MIM:241520]. ARHR is characterized by rickets, osteomalacia, elevated FGF23 serum levels and hypophosphatemia.,Function:May have a dual function during osteoblast differentiation. In the nucleus of undifferentiated osteoblasts, unphosphorylated form acts as a transcriptional component for activation of osteoblast-specific genes like osteocalcin. During the osteoblast to osteocyte transition phase it is phosphorylated and exported into the extracellular matrix, where it regulates nucleation of hydroxyapatite.,PTM:Phosphorylated in the cytosol and extracellular matrix and unphosphorylated in the nucleus. Phosphorylation is necessary for nucleocytoplasmic transport and may be catalyzed by a nuclear isoform of CK2 and can be augmented by calcium.,subcellular location:In proliferating preosteoblasts it is nuclear, during early maturation stage is cytoplasmic and in mature osteoblast localizes in the mineralizated matrix. Export from the nucleus of differentiating osteoblast is triggered by the release of calcium from intracellular stores followed by a massive influx of this pool of calcium into the nucleus.,subunit:Interacts with importin alpha.,tissue specificity:Expressed in tooth particularly in odontoblast, ameloblast and cementoblast.,
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