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Literature summary for 5.1.3.2 extracted from

  • Bang, Y.L.; Nguyen, T.T.; Trinh, T.T.; Kim, Y.J.; Song, J.; Song, Y.H.
    Functional analysis of mutations in UDP-galactose-4-epimerase (GALE) associated with galactosemia in Korean patients using mammalian GALE-null cells (2009), FEBS J., 276, 1952-1961.
    View publication on PubMed

Cloned(Commentary)

Cloned (Comment) Organism
expression of GFP-tagged wild-type enzyme in HEK-293T cells, and transient expression of myc-tagged GALER239W and GALEG302D, and of myc- or FLAG-tagged GALE165K and GALEW336X in HEK-293T cells and in GALE-null ldlD cells Homo sapiens

Protein Variants

Protein Variants Comment Organism
A25V the mutant shows reduced activity compared to the wild-type enzyme Homo sapiens
D69E the mutant shows reduced activity compared to the wild-type enzyme Homo sapiens
E165K unstable mutant Homo sapiens
G302D the mutant enzyme is not able to rescue galactose-sensitive cell proliferation when stably expressed in ldlD cells Homo sapiens
R169W the mutant shows reduced activity compared to the wild-type enzyme Homo sapiens
R239W the mutant enzyme is not able to rescue galactose-sensitive cell proliferation when stably expressed in ldlD cells Homo sapiens
R335H the mutant shows reduced activity compared to the wild-type enzyme Homo sapiens
R40C the mutant shows reduced activity compared to the wild-type enzyme Homo sapiens
W336X unstable mutant Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens Q14376
-
-

Synonyms

Synonyms Comment Organism
GalE
-
Homo sapiens
UDP-galactose-4-epimerase
-
Homo sapiens

General Information

General Information Comment Organism
malfunction UDP-galactose-4-epimerase deficiency causes galactosemia. Altered protein stability is due to misfolding and loss or reduction of enzyme activity is responsible for the molecular defects underlying GALE-deficiency galactosemia Homo sapiens
metabolism GALE is involved in the galactose metabolic pathway Homo sapiens