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Literature summary for 3.2.1.45 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)

Cloned (Comment) Organism
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

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

Organism

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

Specific Activity Minimum [µmol/min/mg] Specific Activity Maximum [µmol/min/mg] Comment Organism
additional information
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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)

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