ENPP1
LOCUS ID5167
GENE_SYMBOLENPP1
GENE NAMEectonucleotide pyrophosphatase/phosphodiesterase 1
SYNONYMNSM6S1, NPP1, NPPS, PC-1, PCA1, ARHR2, COLED, PDNP1
CHROMOSOME6
HOMOLOGENE ID38151
microRNAsNANA
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]

OBSERVATIONS

Complication Evidence PMID
Nephropathy1. K121Q polymorphism of the ENPP1 gene seems to be associated with insulin resistance and DN development.22231969