Phosphoglucomutase 3

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An Error has occurred retrieving Wikidata item for infobox Phosphoacetylglucosamine mutase is an enzyme that in humans is encoded by the PGM3 gene.[1][2][3]

Clinical significance

Mutations in PGM3 are associated to congenital disorder of glycosylation.[4]

References

  1. Pang H, Koda Y, Soejima M, Kimura H (March 2002). "Identification of human phosphoglucomutase 3 (PGM3) as N-acetylglucosamine-phosphate mutase (AGM1)". Annals of Human Genetics. 66 (Pt 2): 139–44. doi:10.1046/j.1469-1809.2002.00103.x. PMID 12174217. S2CID 90947429.
  2. Li C, Rodriguez M, Banerjee D (January 2000). "Cloning and characterization of complementary DNA encoding human N-acetylglucosamine-phosphate mutase protein". Gene. 242 (1–2): 97–103. doi:10.1016/S0378-1119(99)00543-0. PMID 10721701.
  3. "Entrez Gene: PGM3 phosphoglucomutase 3".
  4. Stray-Pedersen A, Backe PH, Sorte HS, Mørkrid L, Chokshi NY, Erichsen HC, et al. (July 2014). "PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia". American Journal of Human Genetics. 95 (1): 96–107. doi:10.1016/j.ajhg.2014.05.007. PMC 4085583. PMID 24931394.

Further reading

External links

  • Overview of all the structural information available in the PDB for UniProt: Q9CYR6 (Mouse Phosphoacetylglucosamine mutase) at the PDBe-KB.