Defective PMM2 causes PMM2-CDG

Stable Identifier
Homo sapiens
Defective PMM2 causes CDG-1a
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Phosphomannomutase 2 (PMM2) normally catalyses the isomerisation of mannose 6-phosphate (Man6P) to mannose 1-phosphate (Man1P) in the cytosol of cells. Man1P is a precursor in the synthesis of GDP-mannose and dolichol-phosphate-mannose, required for critical mannosyl transfer reactions in the N-glycosylation of proteins. Mutations in the PMM2 gene are one of the causes of Jaeken syndrome, a congenital disorder of glycosylation type 1a (PMM2-CDG, previously CDG-1a) (Matthijs et al. 1997). PMM2-CDG was first described in Belgian identical twin sisters, characterized by psychomotor retardation and multiple serum glycoprotein abnormalities. Serum and CSF transferrin were found to be deficient in sialic acid (Jaeken et al. 1984). PMM2-CDG is the most common CDG disease subtype.

Literature References
PubMed ID Title Journal Year
9140401 Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome)

Cassiman, JJ, Matthijs, G, Veiga-da-Cunha, M, Schollen, E, Jaeken, J, Van Schaftingen, E, Pardon, E

Nat Genet 1997
6543331 Sialic acid-deficient serum and cerebrospinal fluid transferrin in a newly recognized genetic syndrome

Eeckels, R, Corbeel, L, van der Heul, C, Eggermont, E, van Eijk, HG, Jaeken, J

Clin. Chim. Acta 1984
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