Phosphomannomutase 2 catalyzes the isomerization of mannose 6-phosphate to mannose 1-phosphate. Mannose 1-phosphate is a precursor to GDP-mannose necessary for the synthesis of dolichol-P-oligosaccharides. Mutations in the gene have been shown to cause defects in the protein glycosylation pathway which manifest as the congenital disorder of glycosylationPMM2 deficiency.[6]
^"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^Matthijs G, Schollen E, Pardon E, Veiga-Da-Cunha M, Jaeken J, Cassiman JJ, Van Schaftingen E (May 1997). "Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome)". Nature Genetics. 16 (1): 88–92. doi:10.1038/ng0597-88. PMID9140401. S2CID22959423.
Matthijs G, Schollen E, Heykants L, Grünewald S (October 1999). "Phosphomannomutase deficiency: the molecular basis of the classical Jaeken syndrome (CDGS type Ia)". Molecular Genetics and Metabolism. 68 (2): 220–6. doi:10.1006/mgme.1999.2914. PMID10527672.
Jaeken J, Matthijs G (2002). "Congenital disorders of glycosylation". Annual Review of Genomics and Human Genetics. 2: 129–51. doi:10.1146/annurev.genom.2.1.129. PMID11701646.
Martinsson T, Bjursell C, Stibler H, Kristiansson B, Skovby F, Jaeken J, Blennow G, Strömme P, Hanefeld F, Wahlström J (November 1994). "Linkage of a locus for carbohydrate-deficient glycoprotein syndrome type I (CDG1) to chromosome 16p, and linkage disequilibrium to microsatellite marker D16S406". Human Molecular Genetics. 3 (11): 2037–42. PMID7874123.
Matthijs G, Schollen E, Pirard M, Budarf ML, Van Schaftingen E, Cassiman JJ (February 1997). "PMM (PMM1), the human homologue of SEC53 or yeast phosphomannomutase, is localized on chromosome 22q13". Genomics. 40 (1): 41–7. doi:10.1006/geno.1996.4536. PMID9070917.
Kondo I, Mizugishi K, Yoneda Y, Hashimoto T, Kuwajima K, Yuasa I, Shigemoto K, Kuroda Y (January 1999). "Missense mutations in phosphomannomutase 2 gene in two Japanese families with carbohydrate-deficient glycoprotein syndrome type 1". Clinical Genetics. 55 (1): 50–4. doi:10.1034/j.1399-0004.1999.550109.x. PMID10066032. S2CID28135672.
Imtiaz F, Worthington V, Champion M, Beesley C, Charlwood J, Clayton P, Keir G, Mian N, Winchester B (March 2000). "Genotypes and phenotypes of patients in the UK with carbohydrate-deficient glycoprotein syndrome type 1". Journal of Inherited Metabolic Disease. 23 (2): 162–74. doi:10.1023/A:1005669900330. PMID10801058. S2CID40450186.
Matthijs G, Schollen E, Bjursell C, Erlandson A, Freeze H, Imtiaz F, Kjaergaard S, Martinsson T, Schwartz M, Seta N, Vuillaumier-Barrot S, Westphal V, Winchester B (November 2000). "Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia)". Human Mutation. 16 (5): 386–94. doi:10.1002/1098-1004(200011)16:5<386::AID-HUMU2>3.0.CO;2-Y. PMID11058895.
Bjursell C, Erlandson A, Nordling M, Nilsson S, Wahlström J, Stibler H, Kristiansson B, Martinsson T (November 2000). "PMM2 mutation spectrum, including 10 novel mutations, in a large CDG type 1A family material with a focus on Scandinavian families". Human Mutation. 16 (5): 395–400. doi:10.1002/1098-1004(200011)16:5<395::AID-HUMU3>3.0.CO;2-T. PMID11058896.
Westphal V, Enns GM, McCracken MF, Freeze HH (May 2001). "Functional analysis of novel mutations in a congenital disorder of glycosylation Ia patient with mixed Asian ancestry". Molecular Genetics and Metabolism. 73 (1): 71–6. doi:10.1006/mgme.2001.3174. PMID11350185.
Heykants L, Schollen E, Grünewald S, Matthijs G (May 2001). "Identification and localization of two mouse phosphomannomutase genes, Pmm1 and Pmm2". Gene. 270 (1–2): 53–9. doi:10.1016/S0378-1119(01)00481-4. PMID11404002.
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PDB gallery
2amy: X-Ray Structure of Human Phosphomannomutase 2 (PMM2)
