| Gene Symbol | ENPP1 |
| Entrez Gene ID | 5167 |
| Full Name | ectonucleotide pyrophosphatase/phosphodiesterase 1 |
| Synonyms | ARHR2,COLED,M6S1,NPP1,NPPS,PC-1,PCA1,PDNP1 |
| General protein information |
|
| Gene Type | protein-coding |
| Organism | Homo sapiens(human) |
| Genome | |
| 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 longitudinal ligament of the spine (OPLL), and insulin resistance. [provided by RefSeq, Jul 2008]. |
| Disorder MIM: | |
| Disorder Html: | {Diabetes mellitus, non-insulin-dependent, susceptibility to}, 125853 (3); {Obesity, susceptibility to}, 601665 (3); Arterial calcification, generalized, of infancy, 1, 208000 (3); Hypophosphatemic rickets, autosomal recessive, 2, 613312 (3); Cole disease, 615522 (3) |
User Manual
