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Literature summary for 2.7.7.13 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

Application Comment Organism
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

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

Localization

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

Organism

Organism UniProt Comment Textmining
Homo sapiens Q9Y5P6
-
-

Substrates and Products (Substrate)

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

Synonyms

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