Aliases for ENPP1 Gene
External Ids for ENPP1 Gene
Previous HGNC Symbols for ENPP1 Gene
Previous GeneCards Identifiers for ENPP1 Gene
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]
GeneCards Summary for ENPP1 Gene
ENPP1 (Ectonucleotide Pyrophosphatase/Phosphodiesterase 1) is a Protein Coding gene. Diseases associated with ENPP1 include arterial calcification, generalized, of infancy, 1 and hypophosphatemic rickets, autosomal recessive, 2. Among its related pathways are Disease and Endochondral Ossification. GO annotations related to this gene include protein homodimerization activity and scavenger receptor activity. An important paralog of this gene is ENPP3.
UniProtKB/Swiss-Prot for ENPP1 Gene
By generating PPi, plays a role in regulating pyrophosphate levels, and functions in bone mineralization and soft tissue calcification. PPi inhibits mineralization by binding to nascent hydroxyapatite (HA) crystals, thereby preventing further growth of these crystals. Preferentially hydrolyzes ATP, but can also hydrolyze other nucleoside 5 triphosphates such as GTP, CTP, TTP and UTP to their corresponding monophosphates with release of pyrophosphate and diadenosine polyphosphates, and also 3,5-cAMP to AMP. May also be involved in the regulation of the availability of nucleotide sugars in the endoplasmic reticulum and Golgi, and the regulation of purinergic signaling. Appears to modulate insulin sensitivity and function.