GALM Chromosome 2
Galactose mutarotase
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What This Gene Does
This gene encodes an enzyme that catalyzes the epimerization of hexose sugars such as glucose and galactose. The encoded protein is expressed in the cytoplasm and has a preference for galactose. The encoded protein may be required for normal galactose metabolism by maintaining the equilibrium of alpha and beta anomers of galactose.[provided by RefSeq, Mar 2009]
Associated Conditions (3)
Galactosemia 4
GALM-related disorder
Inborn genetic diseases
Key Variants
RS114440198
Conflicting classifications of pathogenicity
Galactosemia 4, GALM-related disorder, Inborn genetic diseases
Health Risk
RS115413295
Pathogenic
Galactosemia 4, Galactosemia 4
Health Risk
RS1277727437
Pathogenic
Health Risk
RS367911059
Pathogenic
Health Risk
RS751902026
Pathogenic
Galactosemia 4, Galactosemia 4
Health Risk
RS767153310
Pathogenic
Galactosemia 4, Galactosemia 4
Health Risk
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS114440198 | Health Risk | Conflicting classifications of pathogenicity | Galactosemia 4, GALM-related disorder, Inborn genetic diseases |
| RS115413295 | Health Risk | Pathogenic | Galactosemia 4, Galactosemia 4 |
| RS1277727437 | Health Risk | Pathogenic | — |
| RS367911059 | Health Risk | Pathogenic | — |
| RS751902026 | Health Risk | Pathogenic | Galactosemia 4, Galactosemia 4 |
| RS767153310 | Health Risk | Pathogenic | Galactosemia 4, Galactosemia 4 |