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ENPP1 gene

ectonucleotide pyrophosphatase/phosphodiesterase 1

Key facts

Official symbol
ENPP1
Full name
ENPP1
Chromosome
6
Map location
6q23.2
Organism
Homo sapiens
NCBI Gene ID
5167
Also known as
ARHR2, COLED, M6S1, NPP1, NPPS, PC-1

Function 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].

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Data source: NCBI Gene · alsesAI Gene Library