Alias |
Ectonucleotide pyrophosphatase/phosphodiesterase family member 1, E-NPP 1, Membrane component chromosome 6 surface marker 1, Phosphodiesterase I/nucleotide pyrophosphatase 1, Plasma-cell membrane glycoprotein PC-1, Alkaline phosphodiesterase I, Nucleotide |
Bio Background |
This gene is a member of the ecto-nucleotide pyrophosphatase/phosphodiesterase (ENPP) family. The encoded protein is a type II transmembrane glycoprotein comprising two identical disulfide-bonded subunits. This protein has broad specificity and cleaves a variety of substrates, including phosphodiester bonds of nucleotides and nucleotide sugars and pyrophosphate bonds of nucleotides and nucleotide sugars. This protein may function to hydrolyze nucleoside 5' triphosphates to their corresponding monophosphates and may also hydrolyze diadenosine polyphosphates. Mutations in this gene have been associated with 'idiopathic' infantile arterial calcification, ossification of the posterior longitudinal ligament of the spine (OPLL), and insulin resistance. |
Bio References |
Ermakov, S., et al. Ann. Hum. Biol. 37(6):754-766(2010) Bailey, S.D., et al. Diabetes Care 33(10):2250-2253(2010) Wang, M., et al. Yi Chuan 32(8):808-816(2010) Cruz, M., et al. Diabetes Metab. Res. Rev. 26(4):261-270(2010) Moehlecke, M., et al. Arq. Bras. Cardiol. 94(2):157-161(2010) |