ENPP1
LOCUS ID5167
GENE_SYMBOLENPP1
GENE NAMEectonucleotide pyrop
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 correspondi

OBSERVATIONS

Complication Evidence PMID
Nephropathy1. K121Q polymorphism of the ENPP1 gene seems to be associated with insulin resistance and DN development.22231969
Insulin resistance and inflammation1. After statistical adjustment for body fat content, increasing AT-ENPP1 was associated with up-regulation of genes involved in NEFA metabolism and inflammation, increased postabsorptive NEFA levels, decreased plasma adiponectin, increased liver triglyceride content, and systemic insulin resistance in men. In women, there were no changes in plasma adiponectin, NEFAs, or glucose disposal rate associated with increasing AT-ENPP1, despite increased expression of lipid metabolism and inflammation genes in AT.23012391