Genomes and Genes
Gene Symbol: PC 1
Description: ectonucleotide pyrophosphatase/phosphodiesterase 1
Alias: ARHR2, COLED, M6S1, NPP1, NPPS, PC-1, PCA1, PDNP1, ectonucleotide pyrophosphatase/phosphodiesterase family member 1, E-NPP 1, Ly-41 antigen, alkaline phosphodiesterase 1, membrane component, chromosome 6, surface marker 1, phosphodiesterase I/nucleotide pyrophosphatase 1, plasma-cell membrane glycoprotein 1, plasma-cell membrane glycoprotein PC-1
Products: PC 1
- Keene K, Mychaleckyj J, Smith S, Leak T, Perlegas P, Langefeld C, et al. Association of the distal region of the ectonucleotide pyrophosphatase/phosphodiesterase 1 gene with type 2 diabetes in an African-American population enriched for nephropathy. Diabetes. 2008;57:1057-62 pubmed publisher....
- Abate N, Carulli L, Cabo Chan A, Chandalia M, Snell P, Grundy S. Genetic polymorphism PC-1 K121Q and ethnic susceptibility to insulin resistance. J Clin Endocrinol Metab. 2003;88:5927-34 pubmed..This finding indicates the need for expanded studies on the association between PC-1 K121Q and insulin resistance in a representative sample of the Asian Indian population. ..
- Maddux B, Goldfine I. Membrane glycoprotein PC-1 inhibition of insulin receptor function occurs via direct interaction with the receptor alpha-subunit. Diabetes. 2000;49:13-9 pubmed..These studies also raise the possibility that monoclonal antibodies to PC-1 could be a new treatment for insulin resistance. ..
- Liang J, Fu M, Ciociola E, Chandalia M, Abate N. Role of ENPP1 on adipocyte maturation. PLoS ONE. 2007;2:e882 pubmed..We identify ENPP1 as a novel mechanism of defective adipocyte maturation. This mechanism could contribute to the pathogenesis of insulin resistance in absence of obesity. ..
- Buckley M, Loveland K, McKinstry W, Garson O, Goding J. Plasma cell membrane glycoprotein PC-1. cDNA cloning of the human molecule, amino acid sequence, and chromosomal location. J Biol Chem. 1990;265:17506-11 pubmed..Southern blots suggest a single copy gene. In situ chromosomal hybridization localizes the gene for human PC-1 to chromosome 6q22-q23, a common site for deletions in human lymphoid neoplasia. ..
- Levy Litan V, Hershkovitz E, Avizov L, Leventhal N, Bercovich D, Chalifa Caspi V, et al. Autosomal-recessive hypophosphatemic rickets is associated with an inactivation mutation in the ENPP1 gene. Am J Hum Genet. 2010;86:273-8 pubmed publisher..Our surprising result suggests a different pathway involved in the generation of ARHR and possible additional functions for ENPP1. ..
- Bacci S, Rizza S, Prudente S, Spoto B, Powers C, Facciorusso A, et al. The ENPP1 Q121 variant predicts major cardiovascular events in high-risk individuals: evidence for interaction with obesity in diabetic patients. Diabetes. 2011;60:1000-7 pubmed publisher..The ENPP1 K121Q polymorphism is an independent predictor of major cardiovascular events in high-risk individuals. In type 2 diabetes, this effect is exacerbated by obesity. Future larger studies are needed to confirm our finding. ..
- Lorenz Depiereux B, Schnabel D, Tiosano D, Häusler G, Strom T. Loss-of-function ENPP1 mutations cause both generalized arterial calcification of infancy and autosomal-recessive hypophosphatemic rickets. Am J Hum Genet. 2010;86:267-72 pubmed publisher..Surprisingly, ENPP1 loss-of-function mutations have previously been described in generalized arterial calcification of infancy, suggesting an as yet elusive mechanism that balances arterial calcification with bone mineralization. ..
- Wu L, Hsieh C, Pei D, Hung Y, Kuo S, Lin E. Association and interaction analyses of genetic variants in ADIPOQ, ENPP1, GHSR, PPARgamma and TCF7L2 genes for diabetic nephropathy in a Taiwanese population with type 2 diabetes. Nephrol Dial Transplant. 2009;24:3360-6 pubmed publisher..The results suggest that the SNPs from the T2D-related genes may contribute to the risk of DN in T2D independently and/or in an interactive manner in Taiwanese T2D patients. ..
- Bouhaha R, Meyre D, Kamoun H, Ennafaa H, Vaillant E, Sassi R, et al. Effect of ENPP1/PC-1-K121Q and PPARgamma-Pro12Ala polymorphisms on the genetic susceptibility to T2D in the Tunisian population. Diabetes Res Clin Pract. 2008;81:278-83 pubmed publisher..25-0.97], p=0.02). In conclusion, our findings support the hypothesis that ENPP1-121Q is involved in the genetic susceptibility of T2D in the Tunisian population, while the PPARgamma-12Ala allele may confer protection against overweight. ..
- Jacobsen P, Grarup N, Tarnow L, Parving H, Pedersen O. PC-1 amino acid variant (K121Q) has no impact on progression of diabetic nephropathy in type 1 diabetic patients. Nephrol Dial Transplant. 2002;17:1408-12 pubmed..27], whereas the PC-1 genotype did not contribute. Our study did not reveal an association between the PC-1 amino acid variant K121Q and progression of diabetic nephropathy. ..
- Lee J, Choi Y, Seo H, Jeon J, Jeong J, Moon S, et al. Impact of ENPP1 and MMP3 gene polymorphisms on aortic calcification in patients with type 2 diabetes in a Korean population. Diabetes Res Clin Pract. 2010;88:87-96 pubmed publisher..001). Our study demonstrates that the ENPP1 K121Q and MMP3 -709A>G polymorphisms are associated with T2D, and that the ENPP1 Q allele is associated with increased aortic arch calcification in a Korean population. ..
- Cauchi S, Nead K, Choquet H, Horber F, Potoczna N, Balkau B, et al. The genetic susceptibility to type 2 diabetes may be modulated by obesity status: implications for association studies. BMC Med Genet. 2008;9:45 pubmed publisher....