ENPP1 Gene

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Li, V. ENPP1 Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/5353 (accessed on 21 September 2026).

Li V. ENPP1 Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/5353. Accessed September 21, 2026.

Li, Vivi. "ENPP1 Gene" Encyclopedia, https://encyclopedia.pub/entry/5353 (accessed September 21, 2026).

Li, V. (2020, December 24). ENPP1 Gene. In Encyclopedia. https://encyclopedia.pub/entry/5353

Li, Vivi. "ENPP1 Gene." Encyclopedia. Web. 24 December, 2020.

ENPP1 Gene

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/gene/enpp1

Ectonucleotide pyrophosphatase/phosphodiesterase 1: The ENPP1 gene provides instructions for making a protein called ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1).

genes

References

Bacci S, De Cosmo S, Prudente S, Trischitta V. ENPP1 gene, insulin resistance and related clinical outcomes. Curr Opin Clin Nutr Metab Care. 2007Jul;10(4):403-9. Review.
Eytan O, Morice-Picard F, Sarig O, Ezzedine K, Isakov O, Li Q, Ishida-YamamotoA, Shomron N, Goldsmith T, Fuchs-Telem D, Adir N, Uitto J, Orlow SJ, Taieb A,Sprecher E. Cole Disease Results from Mutations in ENPP1. Am J Hum Genet. 2013Oct 3;93(4):752-7. doi: 10.1016/j.ajhg.2013.08.007.
Galletti S, Nitschke Y, Malavolti AM, Aquilano G, Faldella G, Corvaglia L,Rutsch F. Generalized Arterial Calcification of Infancy: Fatal Clinical CourseAssociated with a Novel Mutation in ENPP1. JIMD Rep. 2011;1:23-7. doi:10.1007/8904_2011_11.
Kalal IG, Seetha D, Panda A, Nitschke Y, Rutsch F. Molecular diagnosis ofgeneralized arterial calcification of infancy (GACI). J Cardiovasc Dis Res. 2012 Apr;3(2):150-4. doi: 10.4103/0975-3583.95373.
Lorenz-Depiereux B, Schnabel D, Tiosano D, Häusler G, Strom TM.Loss-of-function ENPP1 mutations cause both generalized arterial calcification ofinfancy and autosomal-recessive hypophosphatemic rickets. Am J Hum Genet. 2010Feb 12;86(2):267-72. doi: 10.1016/j.ajhg.2010.01.006.
Nitschke Y, Baujat G, Botschen U, Wittkampf T, du Moulin M, Stella J, LeMerrer M, Guest G, Lambot K, Tazarourte-Pinturier MF, Chassaing N, Roche O,Feenstra I, Loechner K, Deshpande C, Garber SJ, Chikarmane R, Steinmann B,Shahinyan T, Martorell L, Davies J, Smith WE, Kahler SG, McCulloch M, Wraige E,Loidi L, Höhne W, Martin L, Hadj-Rabia S, Terkeltaub R, Rutsch F. Generalizedarterial calcification of infancy and pseudoxanthoma elasticum can be caused bymutations in either ENPP1 or ABCC6. Am J Hum Genet. 2012 Jan 13;90(1):25-39. doi:10.1016/j.ajhg.2011.11.020.
Ruf N, Uhlenberg B, Terkeltaub R, Nürnberg P, Rutsch F. The mutationalspectrum of ENPP1 as arising after the analysis of 23 unrelated patients withgeneralized arterial calcification of infancy (GACI). Hum Mutat. 2005Jan;25(1):98. Erratum in: Hum Mutat. 2005 Nov;26(5):495-6.

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Subjects: Genetics & Heredity

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Update Date: 24 Dec 2020

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