GPI Gene

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Liu, D. GPI Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/3812 (accessed on 28 September 2026).

Liu D. GPI Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/3812. Accessed September 28, 2026.

Liu, Dean. "GPI Gene" Encyclopedia, https://encyclopedia.pub/entry/3812 (accessed September 28, 2026).

Liu, D. (2020, December 22). GPI Gene. In Encyclopedia. https://encyclopedia.pub/entry/3812

Liu, Dean. "GPI Gene." Encyclopedia. Web. 22 December, 2020.

GPI Gene

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

Glucose-6-phosphate isomerase

genes

References

Baronciani L, Zanella A, Bianchi P, Zappa M, Alfinito F, Iolascon A, TannoiaN, Beutler E, Sirchia G. Study of the molecular defects in glucose phosphateisomerase-deficient patients affected by chronic hemolytic anemia. Blood. 1996Sep 15;88(6):2306-10.
Beutler E, West C, Britton HA, Harris J, Forman L. Glucosephosphate isomerase (GPI) deficiency mutations associated with hereditary nonspherocytic hemolyticanemia (HNSHA). Blood Cells Mol Dis. 1997 Dec;23(3):402-9.
Fujii H, Kanno H, Hirono A, Miwa S. Hematologically important mutations:molecular abnormalities of glucose phosphate isomerase deficiency. Blood CellsMol Dis. 1996;22(2):96-7. Review.
Kanno H, Fujii H, Hirono A, Ishida Y, Ohga S, Fukumoto Y, Matsuzawa K, OgawaS, Miwa S. Molecular analysis of glucose phosphate isomerase deficiencyassociated with hereditary hemolytic anemia. Blood. 1996 Sep 15;88(6):2321-5.
Kugler W, Breme K, Laspe P, Muirhead H, Davies C, Winkler H, Schröter W,Lakomek M. Molecular basis of neurological dysfunction coupled with haemolyticanaemia in human glucose-6-phosphate isomerase (GPI) deficiency. Hum Genet. 1998 Oct;103(4):450-4.
Lakomek M, Winkler H. Erythrocyte pyruvate kinase- and glucose phosphateisomerase deficiency: perturbation of glycolysis by structural defects andfunctional alterations of defective enzymes and its relation to the clinicalseverity of chronic hemolytic anemia. Biophys Chem. 1997 Jun 30;66(2-3):269-84.
Repiso A, Oliva B, Vives-Corrons JL, Beutler E, Carreras J, Climent F. Redcell glucose phosphate isomerase (GPI): a molecular study of three novelmutations associated with hereditary nonspherocytic hemolytic anemia. Hum Mutat. 2006 Nov;27(11):1159.
Warang P, Kedar P, Ghosh K, Colah RB. Hereditary non-spherocytic hemolyticanemia and severe glucose phosphate isomerase deficiency in an Indian patienthomozygous for the L487F mutation in the human GPI gene. Int J Hematol. 2012Aug;96(2):263-7. doi: 10.1007/s12185-012-1122-x.
Xu W, Beutler E. The characterization of gene mutations for human glucosephosphate isomerase deficiency associated with chronic hemolytic anemia. J ClinInvest. 1994 Dec;94(6):2326-9.

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Subjects: Genetics & Heredity

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