Citations for
1CDG2R, PGM3
PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia.
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.
Am J Hum Genet 95(1):96-107. doi: 10.1016/j.ajhg.2014.05.007. Epub 2014 Jun 12. 2014
2CDG2R, PGM3
Hypomorphic homozygous mutations in phosphoglucomutase 3 (PGM3) impair immunity and increase serum IgE levels.
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.
J Allergy Clin Immunol 133(5):1410-9, 1419.e1-13. doi: 10.1016/j.jaci.2014.02.025. Epub 2014 Apr 1. 2014
3CDG2R, PGM3
Autosomal recessive phosphoglucomutase 3 (PGM3) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment.
Zhang Y, Yu X, Ichikawa M, Lyons JJ, Datta S, Lamborn IT, Jing H, Kim ES, Biancalana M, Wolfe LA, DiMaggio T, Matthews HF, Kranick SM, Stone KD, Holland SM, Reich DS, Hughes JD, Mehmet H, McElwee J, Freeman AF, Freeze HH, Su HC, Milner JD.
J Allergy Clin Immunol 133(5):1400-9, 1409.e1-5. doi: 10.1016/j.jaci.2014.02.013. Epub 2014 Feb 28. 2014
4PGM3
Down-regulation of phosphoglucomutase 3 mediates sulforaphane-induced cell death in LNCaP prostate cancer cells.
Lee CH, Jeong SJ, Yun SM, Kim JH, Lee HJ, Ahn KS, Won SH, Kim HS, Lee HJ, Ahn KS, Zhu S, Chen CY, Kim SH.
Proteome Sci 8:67. doi: 10.1186/1477-5956-8-67. 2010
5PGM3
Identification of human phosphoglucomutase 3 (PGM3) as N-acetylglucosamine-phosphate mutase (AGM1).
Pang H, Koda Y, Soejima M, Kimura H.
Ann Hum Genet 66(Pt 2):139-44. 2002
6PGM3
Cloning and characterization of complementary DNA encoding human N-acetylglucosamine-phosphate mutase protein.
Li C, Rodriguez M, Banerjee D.
Gene 242(1-2):97-103. 2000
7PGM3
Functional cloning and mutational analysis of the human cDNA for phosphoacetylglucosamine mutase: identification of the amino acid residues essential for the catalysis.
Mio T, Yamada-Okabe T, Arisawa M, Yamada-Okabe H.
Biochim Biophys Acta 1492(2-3):369-76. 2000
8PGM2, PGM1, PGM3
A phylogenetic approach to the identification of phosphoglucomutase genes.
Whitehouse DB, Tomkins J, Lovegrove JU, Hopkinson DA, McMillan WO.
Mol Biol Evol 15(4):456-62. 1998
9ME1, PGM3, SOD2
PGM3 and ME1 are probably in the 6pter->q12 region.
Meera Khan P, et al.
(HGM7) Cytogenet Cell Genet 37 : 537. 1984
10PGM3, PEPC, PGD, PGM1
Localization of genes on human chromosomes by studies of human-chinese hamster somatic cell hybrids : assignment of PGM3 to chromosome C6 and regional mapping of the PGD, PGM1 and Pep-C genes on chromosome A1.
Jongsma APM, et al.
Humangenetik 20 : 195-202. 1973
11PGM3
On the orientation of the HL-A region and the PGM3 locus in the chromosome.
Lamm LU, et al.
Tissue Antigens 2 : 205-214. 1972