PMM1,2 isomerise Man6P to Man1P

Stable Identifier
R-HSA-446201
Type
Reaction
Species
Homo sapiens
Compartment
Synonyms
Mannose 6-phosphate isomerises to Mannose 1-phosphate
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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).

Literature References
PubMed ID Title Journal Year
9119384 Isolation of the human phosphomannomutase gene (PMM1) and assignment to chromosome 22q13

Sakamoto, M, Wada, Y

Genomics 1997
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
9070917 PMM (PMM1), the human homologue of SEC53 or yeast phosphomannomutase, is localized on chromosome 22q13

Cassiman, JJ, Pirard, M, Matthijs, G, Schollen, E, Van Schaftingen, E, Budarf, ML

Genomics 1997
Participants
Participates
Catalyst Activity

phosphomannomutase activity of PMM1,2 [cytosol]

Orthologous Events
Authored
Reviewed
Created
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