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Literature summary extracted from

  • Alfonso, P.; Rodriguez-Rey, J.C.; Ganan, A.; Perez-Calvo, J.I.; Giralt, M.; Giraldo, P.; Pocovi, M.
    Expression and functional characterization of mutated glucocerebrosidase alleles causing Gaucher disease in Spanish patients (2004), Blood Cells Mol. Dis., 32, 218-225.
    View publication on PubMed

Cloned(Commentary)

EC Number Cloned (Comment) Organism
3.2.1.45 the mutated gene is subcloned into the mammalian expression vector pCR(R) 3.1 and expressed by transient transfection in COS cells Homo sapiens

Protein Variants

EC Number Protein Variants Comment Organism
3.2.1.45 L336P 37% activity in comparison to wild-type enzyme, a natural occurring mutation in a patient with Gaucher disease Homo sapiens
3.2.1.45 L444P 23.4% activity in comparison to wild-type enzyme, the mutation is used as control Homo sapiens
3.2.1.45 M123T 34.3% activity in comparison to wild-type enzyme, a natural occurring mutation in a patient with Gaucher disease Homo sapiens
3.2.1.45 N370S 32.1% activity in comparison to wild-type enzyme, the mutation is used as control Homo sapiens
3.2.1.45 P266L 28.5% activity in comparison to wild-type enzyme, a natural occurring mutation in a patient with Gaucher disease Homo sapiens
3.2.1.45 S364R 42.7% activity in comparison to wild-type enzyme, a natural occurring mutation in a patient with Gaucher disease Homo sapiens
3.2.1.45 S465del 5.5% activity in comparison to wild-type enzyme, a natural occurring mutation in a patient with Gaucher disease Homo sapiens
3.2.1.45 V15M 22.8% activity in comparison to wild-type enzyme, a natural occurring mutation in a patient with Gaucher disease Homo sapiens

Organism

EC Number Organism UniProt Comment Textmining
3.2.1.45 Homo sapiens P04062
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Specific Activity [micromol/min/mg]

EC Number Specific Activity Minimum [µmol/min/mg] Specific Activity Maximum [µmol/min/mg] Comment Organism
3.2.1.45 additional information
-
 Cells transfected with wild-type enzyme diplays significant levels of enzyme activity, about 90% increase with respect to non-transfected cells 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-glucose
-
 ?