Search results for PMM2

Showing 14 results out of 14

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Protein (6 results from a total of 6)

Identifier: R-HSA-532569
Species: Homo sapiens
Compartment: cytosol
Primary external reference: UniProt: PMM2: O15305
Identifier: R-HSA-3781882
Species: Homo sapiens
Compartment: cytosol
Primary external reference: UniProt: PMM2: O15305
Identifier: R-HSA-3781903
Species: Homo sapiens
Compartment: cytosol
Primary external reference: UniProt: O15305
Identifier: R-HSA-3781891
Species: Homo sapiens
Compartment: cytosol
Primary external reference: UniProt: O15305
Identifier: R-HSA-3781906
Species: Homo sapiens
Compartment: cytosol
Primary external reference: UniProt: O15305
Identifier: R-HSA-3781863
Species: Homo sapiens
Compartment: cytosol
Primary external reference: UniProt: O15305

Set (1 results from a total of 1)

Identifier: R-HSA-3781873
Species: Homo sapiens
Compartment: cytosol

Pathway (4 results from a total of 4)

Identifier: R-HSA-4043911
Species: Homo sapiens
Phosphomannomutase 2 (PMM2) normally 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, characterized by psychomotor retardation and multiple serum glycoprotein abnormalities. Serum and CSF transferrin were found to be deficient in sialic acid (Jaeken et al. 1984). PMM2-CDG is the most common CDG disease subtype.
Identifier: R-HSA-446219
Species: Homo sapiens
Reactions for the synthesis of the small nucleotide-linked sugar substrates that are used in the synthesis of the N-glycan precursor and in the later steps of glycosylation are annotated here.
All these nucleotide-linked sugar donors are synthesized in the cytosol; however, to participate in the later reactions of N-glycan precursor biosynthesis (when the glycan is oriented toward the lumen of the endoplasmic reticulum (ER)), these substrates must be attached to a dolichyl-phosphate molecule and then flipped toward the luminal side of the ER, through a mechanism which is still not known but which involves a different protein than the one that mediates the flipping of the LLO itself (Sanyal et al. 2008). Two of the genes encoding enzymes involved in these reactions, MPI and PMM2, are known to be associated with Congenital Disorders of Glycosylation (CDG) diseases of type I. Of these, CDG-Ia, associated with defects in PMM2, is the most frequent CDG disease reported.
Identifier: R-HSA-4043916
Species: Homo sapiens
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).
Identifier: R-HSA-4724289
Species: Homo sapiens
Dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase (ALG6) normally adds the first glucose moiety to the lipid-linked oligosaccharide precursor (LLO aka N-glycan precursor) which is required for subsequent N-glycosylation of proteins (Imbach et al. 1999). Defects in ALG6 can cause congenital disorder of glycosylation 1c (ALG6-CDG, CDG-1c; MIM:603147), a multisystem disorder characterised by under-glycosylated serum glycoproteins (Imbach et al. 1999, Imbach et al. 2000, Westphal et al. 2000, Sun et al. 2005). ALG6 deficiency is accompanied by an accumulation of the N-glycan precursor (GlcNAc)2 (Man)9 (PP-Dol)1 and is the second most common CDG disease subtype after PMM2-CDG (CDG-1a) (Imbach et al. 1999). CDG type 1 diseases result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency.

Reaction (3 results from a total of 3)

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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