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Literature summary for 3.2.1.45 extracted from

  • Hodanova, K.; Melkova, Z.; Horowitz, M.; Hrebicek, M.
    Transient expression of wild-type and mutant glucocerebrosidases in hybrid vaccinia expression system (2003), Eur. J. Hum. Genet., 11, 369-374.
    View publication on PubMed

Application

Application Comment Organism
medicine more than 150 enzyme gene mutations are described in Gaucher patients Homo sapiens

Cloned(Commentary)

Cloned (Comment) Organism
expression of wild-type and mutant enzymes by vaccinia based system, the wild-type and mutant enzymes are expressed in Gaucher fibroblast cell line L444P/S107L, HeLa G and BSC40, only enzyme-deficient fibroblasts are suitable for expression using plasmid transfection Homo sapiens

Protein Variants

Protein Variants Comment Organism
1263del55 the activity is significantly reduced Homo sapiens
1326insT the activity is significantly reduced Homo sapiens
72delC the activity is significantly reduced Homo sapiens
D409H the activity is significantly reduced Homo sapiens
D409H/T369M the activity is significantly reduced Homo sapiens
G202E the activity is significantly reduced Homo sapiens
L444P the activity is significantly reduced Homo sapiens
L444P/V460V the activity is significantly reduced Homo sapiens
N370S the activity is significantly reduced Homo sapiens
S196P the activity is significantly reduced Homo sapiens
T369M the activity is significantly reduced Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Specific Activity [micromol/min/mg]

Specific Activity Minimum [µmol/min/mg] Specific Activity Maximum [µmol/min/mg] Comment Organism
0.02
-
expressed activity of wild-type enzyme Homo sapiens