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Literature summary extracted from

  • Ortega, R.A.; Torres, P.A.; Swan, M.; Nichols, W.; Boschung, S.; Raymond, D.; Barrett, M.J.; Johannes, B.A.; Severt, L.; Shanker, V.; Hunt, A.L.; Bressman, S.; Pastores, G.M.; Saunders-Pullman, R.
    Glucocerebrosidase enzyme activity in GBA mutation Parkinson disease (2016), J. Clin. Neurosci., 28, 185-186 .
    View publication on PubMedView publication on EuropePMC

Application

EC Number Application Comment Organism
3.2.1.45 medicine enzyme activity is a marker of heterozygous GBA1 mutation Parkonson's disease Homo sapiens

Protein Variants

EC Number Protein Variants Comment Organism
3.2.1.45 A456P the mutation is associated with Parkonson's disease Homo sapiens
3.2.1.45 N370S the mutation is associated with Parkonson's disease Homo sapiens
3.2.1.45 N370S/A456P the mutations are associated with Parkonson's disease Homo sapiens
3.2.1.45 N370S/R496H the mutations are associated with Parkonson's disease Homo sapiens
3.2.1.45 R496H the mutation is associated with Parkonson's disease Homo sapiens

Organism

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

Source Tissue

EC Number Source Tissue Comment Organism Textmining
3.2.1.45 leukocyte
-
 Homo sapiens
-

Substrates and Products (Substrate)

EC Number Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
3.2.1.45 4-methylumbelliferyl beta-D-glucopyranoside + H2O
-
 Homo sapiens 4-methylumbelliferone + beta-D-glucopyranose
-
 ?

Synonyms

EC Number Synonyms Comment Organism
3.2.1.45 GBA1
-
 Homo sapiens
3.2.1.45 Gcase
-
 Homo sapiens
3.2.1.45 glucocerebrosidase
-
 Homo sapiens

General Information

EC Number General Information Comment Organism
3.2.1.45 malfunction a lower enzyme activity precedes development of Parkinson's disease Homo sapiens