Search results for PMM2

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Identifier: R-HSA-3781926
Species: Homo sapiens
Compartment: cytosol
Phosphomannomutase 2 (PMM2) 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, characterised by psychomotor retardation and multiple serum glycoprotein abnormalities. Serum and CSF transferrin were found to be deficient in sialic acid (Jaeken et al. 1984). The most common mutations with no detectable activity and causing a severe phenotype are R141H, D65Y, D188G, G117R and T237R (Matthijs et al. 1997, Matthijs et al. 1998, Kjaergaard et al. 1999, Vuillaumier-Barrot et al. 2000). The R141H mutation is never observed in the homozygous state. Mutations with residual activity producing a milder, less severe phenotype include F119L, C241S, C9Y, L32R and T226S (not annotated here; Vuillaumier-Barrot et al. 2000, Grunewald et al. 2001).
Identifier: R-HSA-446201
Species: Homo sapiens
Compartment: cytosol
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).
Identifier: R-HSA-3781832
Species: Homo sapiens
Compartment: cytosol
Mannose 6-phosphate isomerase (MPI) normally isomerises fructose 6-phosphate (Fru6P) to mannose 6-phosphate (Man6P) in the cytosol. Man6P is a precursor in the synthesis of GDP-mannose and dolichol-phosphate-mannose, required for mannosyl transfer reactions in the N-glycosylation of proteins. Defects in MPI cause congenital disorder of glycosylation 1b (MPI-CDG, previously known as CDG1b,; MIM:602579), a multisystem disorder characterised by under-glycosylated serum glycoproteins (Schollen et al. 2000). Unlike PMM2-CDG (CDG1a), there is no neurological involvement with MPI-CDG. Instead, patients present predominantly with diarrhoea, failure to thrive and protein-losing enteropathy (Pelletier et al. 1986). MPI-CDG is one of two CDGs that can be treated with oral mannose supplementation, but can be fatal if left untreated (Marquardt & Denecke 2003). MPI mutations causing MPI-CDG are R219Q, S102L, M138T, R295H and A38Gfs*26 (Niehues et al. 1998, Schollen et al. 2000, Jaeken et al. 1998, Vuillaumier-Barrot et al. 2002).
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