| ENPP1 |
| LOCUS ID | 5167 |
| GENE_SYMBOL | ENPP1 |
| GENE NAME | ectonucleotide pyrophosphatase/phosphodiesterase 1 |
| SYNONYMNS | M6S1, NPP1, NPPS, PC-1, PCA1, ARHR2, COLED, PDNP1 |
| CHROMOSOME | 6 |
| HOMOLOGENE ID | 38151 |
| GENE SUMMARY |
|---|
| 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 longitudil ligament of the spine (OPLL), and insulin resistance. [provided by RefSeq, Jul 2008] |