Ectonucleotide Pyrophosphatase/Phosphodiesterase 1 (ENPP1)
[Edit]M6S1; NPP1; NPPS; PC-1; PCA1; PDNP1; Membrane component chromosome 6 surface marker 1; Alkaline phosphodiesterase I; Plasma-cell membrane glycoprotein PC-1
Ectonucleotide pyrophosphatase/phosphodiesterase family member 1 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.
Organism species: Homo sapiens (Human)
Organism species: Mus musculus (Mouse)
CATALOG NO. | PRODUCT NAME | APPLICATIONS | |
Proteins | RPF219Mu01 | Recombinant Ectonucleotide Pyrophosphatase/Phosphodiesterase 1 (ENPP1) | Positive Control; Immunogen; SDS-PAGE; WB. |
Antibodies | PAF219Mu01 | Polyclonal Antibody to Ectonucleotide Pyrophosphatase/Phosphodiesterase 1 (ENPP1) | WB; IHC; ICC; IP. |
Assay Kits | n/a | CLIA Kit for Ectonucleotide Pyrophosphatase/Phosphodiesterase 1 (ENPP1) | CLIA Kit Customized Service Offer |
n/a | ELISA Kit for Ectonucleotide Pyrophosphatase/Phosphodiesterase 1 (ENPP1) | ELISA Kit Customized Service Offer |
Organism species: Rattus norvegicus (Rat)
CATALOG NO. | PRODUCT NAME | APPLICATIONS | |
Proteins | RPF219Ra01 | Recombinant Ectonucleotide Pyrophosphatase/Phosphodiesterase 1 (ENPP1) | Positive Control; Immunogen; SDS-PAGE; WB. |
Antibodies | PAF219Ra01 | Polyclonal Antibody to Ectonucleotide Pyrophosphatase/Phosphodiesterase 1 (ENPP1) | WB,IHC |
LAF219Ra81 | FITC-Linked Polyclonal Antibody to Ectonucleotide Pyrophosphatase/Phosphodiesterase 1 (ENPP1) | WB; IHC; ICC; IF. | |
LAF219Ra71 | Biotin-Linked Polyclonal Antibody to Ectonucleotide Pyrophosphatase/Phosphodiesterase 1 (ENPP1) | WB; IHC; ICC. | |
Assay Kits | n/a | CLIA Kit for Ectonucleotide Pyrophosphatase/Phosphodiesterase 1 (ENPP1) | CLIA Kit Customized Service Offer |
n/a | ELISA Kit for Ectonucleotide Pyrophosphatase/Phosphodiesterase 1 (ENPP1) | ELISA Kit Customized Service Offer |
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- "Association of the human NPPS gene with ossification of the posterior longitudinal ligament of the spine (OPLL)."Hum. Genet. 104:492-497(1999) [PubMed] [Europe PMC] [Abstract]
- "Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification." Nat. Genet. 34:379-381(2003) [PubMed] [Europe PMC] [Abstract]
- "Generalized arterial calcification of infancy: different clinical courses in two affected siblings."Am. J. Med. Genet. A 136:210-213(2005) [PubMed] [Europe PMC] [Abstract]
- "The K121Q polymorphism of the ENPP1/PC-1 gene is associated with insulin resistance/atherogenic phenotypes, including earlier onset of type 2 diabetes and myocardial infarction."Diabetes 54:3021-3025(2005) [PubMed] [Europe PMC] [Abstract]
- "The mutational spectrum oENPP1 as arising after the analysis of 23 unrelated patients with generalized arterial calcification of infancy (GACI)."Hum. Mutat. 25:98-98(2005) [PubMed] [Europe PMC] [Abstract]
- "Loss-of-function ENPP1 mutations cause both generalized arterial calcification of infancy and autosomal-recessive hypophosphatemic rickets."Am. J. Hum. Genet. 86:267-272(2010) [PubMed] [Europe PMC] [Abstract]
- "Autosomal-recessive hypophosphatemic rickets is associated with an inactivation mutation in the ENPP1 gene."Am. J. Hum. Genet. 86:273-278(2010) [PubMed] [Europe PMC] [Abstract]
- "An unusual severe vascular case of pseudoxanthoma elasticum presenting as generalized arterial calcification of infancy."Am. J. Med. Genet. A 152:118-123(2010) [PubMed] [Europe PMC] [Abstract]
- "Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6." Am. J. Hum. Genet. 90:25-39(2012) [PubMed] [Europe PMC] [Abstract]
- "Cole disease results from mutations in ENPP1."Am. J. Hum. Genet. 93:752-757(2013) [PubMed] [Europe PMC] [Abstract]