ENPP1 and NT5E interact with receptor of advanced glycation end products (RAGE),[sup] a receptor expressed on endothelial cells, macrophages, dendritic cells, and smooth muscle cells.
Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification.
The researchers injected several different small molecules that could disrupt the activity of ENPP1 and observed a decrease of 50% or more in the extent of calcium deposition.
They also want to explore potential drugs that could render calcification reversible, as the ENPP1 approach only worked to prevent calcium deposits when injected in advance of injury.
2003) Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification.
2010) Autosomal-recessive hypophosphatemic rickets is associated with an inactivation mutation in the ENPP1 gene.
Loss-of Function ENPP1
Mutations Cause Both Generalized Arterial Calcification of Infancy and Autosomal-Recessive Hypophosphatemic Rickets.
18 Insulin resistance, insulin secretion ENPP1
Results: ANK and ENPP1 KO models exhibited cementum up to 12-fold thicker than controls, with ANK KO cementum thicker than ENPP1 KO.
Conclusions: Results supported our hypothesis that ENPP1 KO cementum would resemble ANK KO hypercementosis.
Polycystic ovary syndrome is associated with genetic polymorphism in the insulin signaling gene IRS-1 but not ENPP1
in a Japanese population.
The gene ENPP1
encodes a protein that blocks the action of insulin.