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Literature summary extracted from

  • Amaral, O.; Marcao, A.; Sa Miranda, M.; Desnick, R.J.; Grace, M.E.
    Gaucher disease: expression and characterization of mild and severe acid beta-glucosidase mutations in Portuguese type 1 patients (2000), Eur. J. Hum. Genet., 8, 95-102.
    View publication on PubMed

Application

EC Number Application Comment Organism
3.2.1.45 medicine Gaucher disease, sphingolipoidose Homo sapiens

Cloned(Commentary)

EC Number Cloned (Comment) Organism
3.2.1.45 expression in Sf9 cells Homo sapiens

Protein Variants

EC Number Protein Variants Comment Organism
3.2.1.45 F109V Gaucher disease mutation, less active Homo sapiens
3.2.1.45 G377S Gaucher disease mutation, less active Homo sapiens
3.2.1.45 N370S Gaucher disease type I mutation Homo sapiens
3.2.1.45 N396T Gaucher disease mutation, less active Homo sapiens
3.2.1.45 P415R
-
 Homo sapiens
3.2.1.45 R359Q Gaucher disease mutation, less active Homo sapiens
3.2.1.45 R395P Gaucher disease mutation, less active Homo sapiens
3.2.1.45 W184R Gaucher disease mutation, less active Homo sapiens

Inhibitors

EC Number Inhibitors Comment Organism Structure
3.2.1.45 (1R,2R,3S,4S,5R,6S)-7-oxabicyclo[4.1.0]heptane-2,3,4,5-tetrol
-
 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 glucocerebroside + H2O Homo sapiens
-
 glucose + ceramide
-
 ?

Organism

EC Number Organism UniProt Comment Textmining
3.2.1.45 Homo sapiens P04062 normal and Gaucher disease enzyme
-

Purification (Commentary)

EC Number Purification (Comment) Organism
3.2.1.45 of the recombinant protein Homo sapiens

Source Tissue

EC Number Source Tissue Comment Organism Textmining
3.2.1.45 fibroblast skin fibroblasts in culture Homo sapiens
-

Substrates and Products (Substrate)

EC Number Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
3.2.1.45 12(N-methyl-N-(7-nitrobenz-2-oxa-1,3-diazol-4-yl))aminododecanoyl-2-N-sphingosyl 1-O-beta-D-glucoside + H2O
-
 Homo sapiens D-glucose + 12(N-methyl-N-(7-nitrobenz-2-oxa-1,3-diazol-4-yl))aminododecanoyl-2-N-sphingosine
-
 ?
3.2.1.45 4-methylumbelliferyl-beta-D-glucopyranoside + H2O
-
 Homo sapiens methylumbelliferone + glucose
-
 ?
3.2.1.45 glucocerebroside + H2O
-
 Homo sapiens glucose + ceramide
-
 ?