Any feedback?
Please rate this page
(literature.php)
(0/150)

BRENDA support

Literature summary 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

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

Protein Variants

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

Natural Substrates/ Products (Substrates)

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

Organism

EC Number Organism UniProt Comment Textmining
3.2.1.45 Homo sapiens
-
-
-

Substrates and Products (Substrate)

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

Synonyms

EC Number Synonyms Comment Organism
3.2.1.45 GBA
-
 Homo sapiens