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 | 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 | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | Q14376 | - |
- |
Synonyms | Comment | Organism |
---|---|---|
GalE | - |
Homo sapiens |
UDP-galactose-4-epimerase | - |
Homo sapiens |
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 |