Nutrigenomics

See Also

• Subset of likely Type 2 diabetes genes

Description

• Official Symbol: ENPP1
• Name: ectonucleotide pyrophosphatase/phosphodiesterase 1 provided by HUGO Gene
• Gene type: protein coding
• Gene name: ENPP1
• Gene description: ectonucleotide pyrophosphatase/phosphodiesterase 1
• Organism: Homo sapiens
• Chromosome: 6; Location: 6q22-q23
• Gene aliases: M6S1; NPP1; NPPS; PC-1; PCA1; PDNP1

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.

Discussion

• Analysis of the DNA variations of ENPP1 provides a first molecular basis for the physiopathologic association between severe insulin resistance and obesity, and further type 2 diabetes. Pubmed
• Overexpression of ENPP1 induces insulin resistance and hyperglycemia. [1]

PC1(ENPP1) has a role in predisposition to early myocardial infarction. Pubmed

Phenotypes

• MIM: 208000 Arterial calcification, generalized, of infancy
• Diabetes mellitus, non-insulin-dependent, susceptibility to MIM: 125853
• Obesity, susceptibility to MIM: 601665
• Ossification of posterior longitudinal ligament of spine MIM: 602475

Links