PMM1,2 isomerise Man6P to Man1P

Stable Identifier
R-HSA-446201
Type
Reaction [transition]
Species
Homo sapiens
Compartment
Synonyms
Mannose 6-phosphate isomerises to Mannose 1-phosphate
Locations in the PathwayBrowser
General
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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
9140401 Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome)

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

Nat Genet 1997
9119384 Isolation of the human phosphomannomutase gene (PMM1) and assignment to chromosome 22q13

Wada, Y, Sakamoto, M

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

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

Genomics 1997
Participants
Participant Of
Catalyst Activity
Catalyst Activity
Title
phosphomannomutase activity of PMM1,2 [cytosol]
Physical Entity
Activity
Orthologous Events
Authored
Reviewed
Created