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Literature summary extracted from

  • Horowitz, M.; Pasmanik-Chor, M.; Ron, I.; Kolodny, E.H.
    The enigma of the E326K mutation in acid beta-glucocerebrosidase (2011), Mol. Genet. Metab., 104, 35-38.
    View publication on PubMed

Protein Variants

EC Number Protein Variants Comment Organism
3.2.1.45 D140H mean activity of mutant compared to wild-type: 67.7% Homo sapiens
3.2.1.45 D140H/E326K mean activity of mutant compared to wild-type: 22.2% Homo sapiens
3.2.1.45 E326K Gaucher disease causing mutation in human. Mean activity of mutant compared to wild-type: 38.7%. Considering the biochemical data together with the patients' data: E326K is a very mild mutation and, therefore, does not appear as a single mutation on a Gaucher disease allele. It further depresses the enzymatic activity of any other GBA mutation with which it appears in cis Homo sapiens
3.2.1.45 N370S mean activity of mutant compared to wild-type: 17.7% Homo sapiens

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 4-methylumbelliferyl-beta-D-glucopyranoside + H2O
-
 Homo sapiens methylumbelliferone + beta-D-glucose
-
 ?

Synonyms

EC Number Synonyms Comment Organism
3.2.1.45 beta-glucocerebrosidase
-
 Homo sapiens
3.2.1.45 GBA
-
 Homo sapiens