The PGM3 gene provides instructions for making an enzyme called phosphoglucomutase 3 (PGM3). This enzyme is involved in a process called glycosylation. During this process, complex chains of sugar molecules (oligosaccharides) are added to proteins and fats (lipids). Glycosylation modifies proteins and lipids so they can perform a wider variety of functions.
The PGM3 enzyme converts a molecule called N-acetylglucosamine-6-phosphate into a different molecule called N-acetylglucosamine-1-phosphate. This conversion is required to make a sugar called uridine diphosphate-N-acetylglucosamine (UDP-GlcNAc), which is needed to transfer sugars to growing oligosaccharides during glycosylation.
Health Conditions Related to Genetic Changes
PGM3-congenital disorder of glycosylation
At least 16 mutations in the PGM3 gene have been found to cause PGM3-congenital disorder of glycosylation (PGM3-CDG). This condition primarily affects the immune system but can also involve other areas of the body. Affected individuals often have impaired immune function (immune deficiency), distinct facial features, intellectual disability, and delayed development.
PGM3 gene mutations result in the production of an enzyme with reduced activity. Without a properly functioning enzyme, there is a shortage of UDP-GlcNAc and glycosylation cannot proceed normally. The wide variety of signs and symptoms in PGM3-CDG are likely due to impaired glycosylation of proteins and lipids that are needed for the normal function of many organs and tissues. Immune system proteins are highly dependent on glycosylation to function normally, which likely explains why people with PGM3-CDG have immune deficiency.More About This Health Condition
Other Names for This Gene
- acetylglucosamine phosphomutase
- N-acetylglucosamine-phosphate mutase 1
Additional Information & Resources
Tests Listed in the Genetic Testing Registry
Scientific Articles on PubMed
Catalog of Genes and Diseases from OMIM
- Jaeken J, Lefeber DJ, Matthijs G. Clinical Utility Gene Card for: PGM3 defective congenital disorder of glycosylation. Eur J Hum Genet. 2019 Nov;27(11):1757-1760. doi: 10.1038/s41431-019-0453-y. Epub 2019 Jun 23. Citation on PubMed
- Lundin KE, Hamasy A, Backe PH, Moens LN, Falk-Sörqvist E, Elgstøen KB, Mørkrid L, Bjørås M, Granert C, Norlin AC, Nilsson M, Christensson B, Stenmark S, Smith CI. Susceptibility to infections, without concomitant hyper-IgE, reported in 1976, is caused by hypomorphic mutation in the phosphoglucomutase 3 (PGM3) gene. Clin Immunol. 2015 Dec;161(2):366-72. doi: 10.1016/j.clim.2015.10.002. Epub 2015 Oct 19. Citation on PubMed or Free article on PubMed Central
- Sassi A, Lazaroski S, Wu G, Haslam SM, Fliegauf M, Mellouli F, Patiroglu T, Unal E, Ozdemir MA, Jouhadi Z, Khadir K, Ben-Khemis L, Ben-Ali M, Ben-Mustapha I, Borchani L, Pfeifer D, Jakob T, Khemiri M, Asplund AC, Gustafsson MO, Lundin KE, Falk-Sörqvist E, Moens LN, Gungor HE, Engelhardt KR, Dziadzio M, Stauss H, Fleckenstein B, Meier R, Prayitno K, Maul-Pavicic A, Schaffer S, Rakhmanov M, Henneke P, Kraus H, Eibel H, Kölsch U, Nadifi S, Nilsson M, Bejaoui M, Schäffer AA, Smith CI, Dell A, Barbouche MR, Grimbacher B. Hypomorphic homozygous mutations in phosphoglucomutase 3 (PGM3) impair immunity and increase serum IgE levels. J Allergy Clin Immunol. 2014 May;133(5):1410-9, 1419.e1-13. doi: 10.1016/j.jaci.2014.02.025. Epub 2014 Apr 1. Citation on PubMed or Free article on PubMed Central
- Stray-Pedersen A, Backe PH, Sorte HS, Mørkrid L, Chokshi NY, Erichsen HC, Gambin T, Elgstøen KB, Bjørås M, Wlodarski MW, Krüger M, Jhangiani SN, Muzny DM, Patel A, Raymond KM, Sasa GS, Krance RA, Martinez CA, Abraham SM, Speckmann C, Ehl S, Hall P, Forbes LR, Merckoll E, Westvik J, Nishimura G, Rustad CF, Abrahamsen TG, Rønnestad A, Osnes LT, Egeland T, Rødningen OK, Beck CR; Baylor-Johns Hopkins Center for Mendelian Genomics, Boerwinkle EA, Gibbs RA, Lupski JR, Orange JS, Lausch E, Hanson IC. PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia. Am J Hum Genet. 2014 Jul 3;95(1):96-107. doi: 10.1016/j.ajhg.2014.05.007. Epub 2014 Jun 12. Citation on PubMed or Free article on PubMed Central
- Yang L, Fliegauf M, Grimbacher B. Hyper-IgE syndromes: reviewing PGM3 deficiency. Curr Opin Pediatr. 2014 Dec;26(6):697-703. doi: 10.1097/MOP.0000000000000158. Review. Citation on PubMed