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Literature summary for 3.2.1.45 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

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

Protein Variants

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

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Source Tissue

Source Tissue Comment Organism Textmining
leukocyte
-
Homo sapiens
-

Substrates and Products (Substrate)

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

Synonyms

Synonyms Comment Organism
GBA1
-
Homo sapiens
Gcase
-
Homo sapiens
glucocerebrosidase
-
Homo sapiens

General Information

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