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Literature summary extracted from

  • Carss, K.J.; Stevens, E.; Foley, A.R.; Cirak, S.; Riemersma, M.; Torelli, S.; Hoischen, A.; Willer, T.; van Scherpenzeel, M.; Moore, S.A.; Messina, S.; Bertini, E.; Boennemann, C.G.; Abdenur, J.E.; Grosmann, C.M.; Kesari, A.; Punetha, J.; Quinlivan, R.; Waddell, L.B.; Young, H.K.; Wraige, E.; Yau, S.; et, al.
    Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of alpha-dystroglycan (2013), Am. J. Hum. Genet., 93, 29-41 .
    View publication on PubMedView publication on EuropePMC

Application

EC Number Application Comment Organism
2.7.7.13 medicine mutations in GMPPB can result in muscular dystrophy variants with hypoglycosylated alpha--dystroglycan. Muscle biopsies of affected individuals and available fibroblasts display reduced alpha-dystroglycan glycosylation. Five of the identified missense mutations cause formation of aggregates in the cytoplasm or near membrane protrusions Homo sapiens

Protein Variants

EC Number Protein Variants Comment Organism
2.7.7.13 D27H/V330I mutation identified in patient with muscular dystrophy Homo sapiens
2.7.7.13 P22S/D334N mutation identified in patient with muscular dystrophy Homo sapiens
2.7.7.13 P32L/R287Q mutation identified in patient with muscular dystrophy Homo sapiens
2.7.7.13 R185C mutation identified in patient with muscular dystrophy Homo sapiens
2.7.7.13 R74*/D334N mutation identified in patient with muscular dystrophy Homo sapiens

Localization

EC Number Localization Comment Organism GeneOntology No. Textmining
2.7.7.13 cytoplasm
-
 Homo sapiens 5737
-

Organism

EC Number Organism UniProt Comment Textmining
2.7.7.13 Homo sapiens Q9Y5P6
-
-

Substrates and Products (Substrate)

EC Number Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
2.7.7.13 GTP + alpha-D-mannose 1-phosphate
-
 Homo sapiens diphosphate + GDP-alpha-D-mannose
-
 ?

Synonyms

EC Number Synonyms Comment Organism
2.7.7.13 GDP-mannose pyrophosphorylase
-
 Homo sapiens
2.7.7.13 GMPPB
-
 Homo sapiens
2.7.7.13 guanosine diphosphate mannose pyrophosphorylase
-
 Homo sapiens