Glucose / Energy Metabolism

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Ectonucleotide pyrophosphatase-phosphodiesterase 1 (ENPP1) is a single-pass, type II transmembrane protein primarily involved in ATP hydrolysis at the plasma membrane. Targeting of ENPP1 to the basolateral cell surface relies on the presence of a carboxy-terminal di-leucine-based signal (1). ENPP1 plays important roles in bone mineralization and soft tissue calcification (2-5). Mutations in the corresponding ENPP1 gene cause generalized arterial calcification in infancy (GACI) and idiopathic infantile arterial calcification (IIAC) (6,7). ENPP1 inhibits insulin receptor function and overexpression of this enzyme causes insulin resistance and glucose intolerance in mice (8,9). Genetic variants of ENPP1 have been associated with obesity and type 2 diabetes (10-12).

1. Bello, V. et al. (2001) Mol Biol Cell 12, 3004-15.
2. Okawa, A. et al. (1998) Nat Genet 19, 271-3.
3. Nakamura, I. et al. (1999) Hum Genet 104, 492-7.
4. Harmey, D. et al. (2004) Am J Pathol 164, 1199-209.
5. Hessle, L. et al. (2002) Proc Natl Acad Sci USA 99, 9445-9.
6. Rutsch, F. et al. (2003) Nat Genet 34, 379-81.
7. Ruf, N. et al. (2005) Hum Mutat 25, 98.
8. Dong, H. et al. (2005) Diabetes 54, 367-72.
9. Maddux, B.A. et al. (2006) Am J Physiol Endocrinol Metab 290, E746-9.
10. Meyre, D. et al. (2005) Nat Genet 37, 863-7.
11. Keene, K.L. et al. (2008) Diabetes 57, 1057-62.
12. Bacci, S. et al. (2007) Curr Opin Clin Nutr Metab Care 10, 403-9.

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ENPP1 Antibody (Human Specific)

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