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Literature summary for 3.2.1.45 extracted from

  • Neumann, J.; Bras, J.; Deas, E.; OSullivan, S.S.; Parkkinen, L.; Lachmann, R.H.; Li, A.; Holton, J.; Guerreiro, R.; Paudel, R.; Segarane, B.; Singleton, A.; Lees, A.; Hardy, J.; Houlden, H.; Revesz, T.; Wood, N.W.
    Glucocerebrosidase mutations in clinical and pathologically proven Parkinsons disease (2009), Brain, 132, 1783-1794.
    View publication on PubMedView publication on EuropePMC

Application

Application Comment Organism
medicine GBA mutations represent a significant risk factor for the development of Parkinson’s disease Homo sapiens

Protein Variants

Protein Variants Comment Organism
D419A the mutation is associated with Parkinson’s disease Homo sapiens
D448H the mutation is associated with Parkinson’s disease Homo sapiens
D482N the mutation is associated with Parkinson’s disease Homo sapiens
G232E the mutation is associated with Parkinson’s disease Homo sapiens
K46E the mutation is associated with Parkinson’s disease Homo sapiens
N409S the mutation is associated with Parkinson’s disease Homo sapiens
R170C the mutation is associated with Parkinson’s disease Homo sapiens
R296Q the mutation is associated with Parkinson’s disease Homo sapiens
R502C the mutation is associated with Parkinson’s disease Homo sapiens
V497L the mutation is associated with Parkinson’s disease Homo sapiens

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
glucosylceramide + H2O Homo sapiens
-
beta-D-glucose + ceramide
-
?

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
glucosylceramide + H2O
-
Homo sapiens beta-D-glucose + ceramide
-
?

Synonyms

Synonyms Comment Organism
GBA
-
Homo sapiens