Phosphoglucomutase 3 Explained

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]

Further reading

• Chen SH, Anderson JE, Giblett ER, Stamatoyannopoulos G . Isozyme patterns in erythrocytes from human fetuses . American Journal of Hematology . 3 . 23–8 . 1978 . 203189 . 10.1002/ajh.2830030103 . 19875224 . George Stamatoyannopoulos .
• Yoshida H, Abe T, Nakamura F . Studies on the frequencies of PGM1, PGM3 and Es-D types from hair roots in Japanese subjects and the determination of these types from old hair roots . Forensic Science International . 14 . 1 . 1–7 . 1979 . 468082 . 10.1016/0379-0738(79)90150-6 .
• Marshall MJ, Neal FE, Goldberg DM . Isoenzymes of hexokinase, 6-phosphogluconate dehydrogenase, phosphoglucomutase and lactate dehydrogenase in uterine cancer . British Journal of Cancer . 40 . 3 . 380–90 . September 1979 . 508567 . 2010033 . 10.1038/bjc.1979.192 .
• Cantu JM, Ibarra B . Phosphoglucomutase: evidence for a new locus expressed in human milk . Science . 216 . 4546 . 639–40 . May 1982 . 6461922 . 10.1126/science.6461922 . 1982Sci...216..639C .
• Maruyama K, Sugano S . Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides . Gene . 138 . 1–2 . 171–4 . January 1994 . 8125298 . 10.1016/0378-1119(94)90802-8 .
• Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S . Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library . Gene . 200 . 1–2 . 149–56 . October 1997 . 9373149 . 10.1016/S0378-1119(97)00411-3 .
• Mio T, Yamada-Okabe T, Arisawa M, Yamada-Okabe H . Functional cloning and mutational analysis of the human cDNA for phosphoacetylglucosamine mutase: identification of the amino acid residues essential for the catalysis . Biochimica et Biophysica Acta (BBA) - Gene Structure and Expression . 1492 . 2–3 . 369–76 . July 2000 . 11004509 . 10.1016/S0167-4781(00)00120-2 .

Notes and References

1. Pang H, Koda Y, Soejima M, Kimura H . Identification of human phosphoglucomutase 3 (PGM3) as N-acetylglucosamine-phosphate mutase (AGM1) . Annals of Human Genetics . 66 . Pt 2 . 139–44 . March 2002 . 12174217 . 10.1046/j.1469-1809.2002.00103.x . 90947429 .
2. Li C, Rodriguez M, Banerjee D . Cloning and characterization of complementary DNA encoding human N-acetylglucosamine-phosphate mutase protein . Gene . 242 . 1–2 . 97–103 . January 2000 . 10721701 . 10.1016/S0378-1119(99)00543-0 .
3. Web site: Entrez Gene: PGM3 phosphoglucomutase 3.
4. 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, Boerwinkle EA, Gibbs RA, Lupski JR, Orange JS, Lausch E, Hanson IC . 6 . PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia . American Journal of Human Genetics . 95 . 1 . 96–107 . July 2014 . 24931394 . 4085583 . 10.1016/j.ajhg.2014.05.007 .