Mannose-6-phosphate isomerase (MPI) isomerises fructose 6-phosphate (Fru6P) to mannose 6-phosphate (Man6P) (Proudfoot et al. 1994). Defects in this gene are associated with congenital disorder of glycosylation type 1B (CDG1B). Oral administration of mannose is an efficient therapy against this defect (Schollen et al. 2000).
Freeze, H, Huijmans, JG, Schollen, E, Patterson, M, Pronicka, E, Babovic-Vuksanovic, D, Van Diggelen, OP, Matthijs, G, Adamowicz, M, Dorland, L, Marquardt, T, Winchester, B, Imtiaz, F, de Koning, TJ
Proudfoot, AE, Wells, TN, Payton, MA, Turcatti, G, Smith, DJ
mannose-6-phosphate isomerase activity of MPI [cytosol]
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