Phosphomannomutases 1 and 2 (PMM1 and PMM2) catalyse the isomerisation of mannose 6-phosphate (Man6P) to mannose 1-phosphate (Man1P) in the cytosol of cells (Wada & Sakamoto 1997, Matthijs et al. 1997). Mutations in the PMM2 gene are one of the causes of Jaeken syndrome. a disease of glycosylation, type CDGIa. (Matthijs et al. 1997b).
Sakamoto, M, Wada, Y
Cassiman, JJ, Matthijs, G, Veiga-da-Cunha, M, Schollen, E, Jaeken, J, Van Schaftingen, E, Pardon, E
Cassiman, JJ, Pirard, M, Matthijs, G, Schollen, E, Van Schaftingen, E, Budarf, ML
phosphomannomutase activity of PMM1,2 [cytosol]
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