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Literature summary for 3.2.1.21 extracted from

  • Michelin, K.; Wajner, A.; Bock, H.; Fachel, A.; Rosenberg, R.; Pires, R.F.; Pereira, M.L.; Giugliani, R.; Coelho, J.C.
    Biochemical properties of beta-glucosidase in leukocytes from patients and obligated heterozygotes for Gaucher disease carriers (2005), Clin. Chim. Acta, 362, 101-109.
    View publication on PubMed
Search for more literature for 3.2.1.21

Protein Variants

Protein Variants Comment Organism
D409H naturally occurring mutation involved in Gaucher's disease development with reduced enzyme activity, obligated GD heterozygotes Homo sapiens
L444P naturally occurring mutation involved in Gaucher's disease development with reduced enzyme activity, obligated GD heterozygotes Homo sapiens
additional information naturally occurring deletion mutantions involved in Gaucher's disease development with reduced enzyme activity Homo sapiens
N370S naturally occurring mutation involved in Gaucher's disease development with reduced enzyme activity, obligated GD heterozygotes, and homozygote GD patients Homo sapiens
N370S/D409H naturally occurring mutation involved in Gaucher's disease development with reduced enzyme activity, homozygote GD patients Homo sapiens
N370S/L444P naturally occurring mutation involved in Gaucher's disease development with reduced enzyme activity, homozygote GD patients Homo sapiens

KM Value [mM]

KM Value [mM] KM Value Maximum [mM] Substrate Comment Organism Structure
2.97
-
 4-methylumbelliferyl beta-D-glucoside pH 5.5, 37°C, mutant N370S/L444P, Gaucher's disease patient Homo sapiens
6.04
-
 4-methylumbelliferyl beta-D-glucoside pH 5.5, 37°C, wild-type enzyme Homo sapiens
7.18
-
 4-methylumbelliferyl beta-D-glucoside pH 5.5, 37°C, mutant N370S, heterozygote Homo sapiens
12.37
-
 4-methylumbelliferyl beta-D-glucoside pH 5.5, 37°C, mutant N370S/N370S, Gaucher's disease patient Homo sapiens
12.4
-
 4-methylumbelliferyl beta-D-glucoside pH 5.5, 37°C, mutant L444P, heterozygote Homo sapiens
18.43
-
 4-methylumbelliferyl beta-D-glucoside pH 5.5, 37°C, mutant N370S and deletion mutation, Gaucher's disease patient Homo sapiens
37.2
-
 4-methylumbelliferyl beta-D-glucoside pH 5.5, 37°C, mutant D409H, heterozygote Homo sapiens

Localization

Localization Comment Organism GeneOntology No. Textmining
lysosome
-
 Homo sapiens 5764
-

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
additional information Homo sapiens enzyme deficiency causes the Gaucher's disease, the enzyme participates in degradation of glycosphingolipids ?
-
 ?

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
 healthy humans and Gaucher's disease patients
-

Source Tissue

Source Tissue Comment Organism Textmining
leukocyte from healthy humans and Gaucher's disease patients Homo sapiens
-

Specific Activity [micromol/min/mg]

Specific Activity Minimum [µmol/min/mg] Specific Activity Maximum [µmol/min/mg] Comment Organism
additional information
-
-
 Homo sapiens
0.000007 0.000043 mutant enzymes of GD patients Homo sapiens
0.000063 0.00018 obligated GD heterozygotes Homo sapiens
0.0001 0.0005 wild-type enzyme Homo sapiens

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
4-methylumbelliferyl beta-D-glucoside + H2O
-
 Homo sapiens 4-methylumbelliferol + beta-D-glucose
-
 ?
additional information enzyme deficiency causes the Gaucher's disease, the enzyme participates in degradation of glycosphingolipids Homo sapiens ?
-
 ?

Temperature Optimum [°C]

Temperature Optimum [°C] Temperature Optimum Maximum [°C] Comment Organism
37
-
 assay at Homo sapiens

Temperature Stability [°C]

Temperature Stability Minimum [°C] Temperature Stability Maximum [°C] Comment Organism
60
-
 heat stability of wild-type and mutant enzymes at 60°C, overview, the wild-type enzyme is inactivated within 1 min, homozygote mutants are inactive after 2 min, heterozygotes after 2-4 min Homo sapiens

pH Optimum

pH Optimum Minimum pH Optimum Maximum Comment Organism
5 5.4 slight variations between wild-type and mutant enzymes, overview Homo sapiens