GALE Chromosome 1
UDP-galactose-4-epimerase
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What This Gene Does
This gene encodes UDP-galactose-4-epimerase which catalyzes two distinct but analogous reactions: the epimerization of UDP-glucose to UDP-galactose, and the epimerization of UDP-N-acetylglucosamine to UDP-N-acetylgalactosamine. The bifunctional nature of the enzyme has the important metabolic consequence that mutant cells (or individuals) are dependent not only on exogenous galactose, but also on exogenous N-acetylgalactosamine as a necessary precursor for the synthesis of glycoproteins and glycolipids. Mutations in this gene result in epimerase-deficiency galactosemia, also referred to as galactosemia type 3, a disease characterized by liver damage, early-onset cataracts, deafness and cognitive disability, with symptoms ranging from mild ('peripheral' form) to severe ('generalized' form). Multiple alternatively spliced transcripts encoding the same protein have been identified. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Short chain dehydrogenase/reductase superfamily
Locus Type
gene with protein product
Location
1p36.11
Ensembl
ENSG00000117308
Associated Conditions (11)
UDPglucose-4-epimerase deficiency
Thrombocytopenia 13
syndromic
Inborn genetic diseases
GALE-related disorder
Thyroid cancer
nonmedullary
1
Galactosemia III
severe
See cases
Key Variants
RS1035870470
Conflicting classifications of pathogenicity
UDPglucose-4-epimerase deficiency, UDPglucose-4-epimerase deficiency
Health Risk
RS121908046
Conflicting classifications of pathogenicity
UDPglucose-4-epimerase deficiency, Thrombocytopenia 13, syndromic
Health Risk
RS1243531358
Conflicting classifications of pathogenicity
UDPglucose-4-epimerase deficiency, UDPglucose-4-epimerase deficiency
Health Risk
RS138148991
Conflicting classifications of pathogenicity
UDPglucose-4-epimerase deficiency, UDPglucose-4-epimerase deficiency
Health Risk
RS138518245
Conflicting classifications of pathogenicity
UDPglucose-4-epimerase deficiency, UDPglucose-4-epimerase deficiency
Health Risk
RS144723215
Conflicting classifications of pathogenicity
UDPglucose-4-epimerase deficiency, UDPglucose-4-epimerase deficiency
Health Risk
RS1457875051
Conflicting classifications of pathogenicity
UDPglucose-4-epimerase deficiency, Thrombocytopenia 13, syndromic
Health Risk
RS1463746382
Conflicting classifications of pathogenicity
UDPglucose-4-epimerase deficiency, UDPglucose-4-epimerase deficiency
Health Risk
RS199622680
Conflicting classifications of pathogenicity
UDPglucose-4-epimerase deficiency, UDPglucose-4-epimerase deficiency
Health Risk
RS200182186
Conflicting classifications of pathogenicity
UDPglucose-4-epimerase deficiency, UDPglucose-4-epimerase deficiency
Health Risk
RS200584878
Conflicting classifications of pathogenicity
UDPglucose-4-epimerase deficiency, UDPglucose-4-epimerase deficiency
Health Risk
RS369293480
Conflicting classifications of pathogenicity
UDPglucose-4-epimerase deficiency, UDPglucose-4-epimerase deficiency
Health Risk
All Variants (64)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2521326203 | Health Risk | Pathogenic | UDPglucose-4-epimerase deficiency, UDPglucose-4-epimerase deficiency |
| RS28940882 | Health Risk | Pathogenic | UDPglucose-4-epimerase deficiency, UDPglucose-4-epimerase deficiency |
| RS3180383 | Health Risk | Pathogenic | UDPglucose-4-epimerase deficiency, UDPglucose-4-epimerase deficiency |
| RS758716088 | Health Risk | Pathogenic | UDPglucose-4-epimerase deficiency, UDPglucose-4-epimerase deficiency |
| RS794727702 | Health Risk | Pathogenic | — |
| RS121908047 | Health Risk | Pathogenic/Likely pathogenic | Galactosemia III, severe, UDPglucose-4-epimerase deficiency |
| RS1268440347 | Health Risk | Pathogenic/Likely pathogenic | UDPglucose-4-epimerase deficiency, Thrombocytopenia 13, syndromic |
| RS137853859 | Health Risk | Pathogenic/Likely pathogenic | UDPglucose-4-epimerase deficiency, See cases, Thrombocytopenia 13 |
| RS137853860 | Health Risk | Pathogenic/Likely pathogenic | UDPglucose-4-epimerase deficiency, Thrombocytopenia 13, syndromic |
| RS1557479812 | Health Risk | Pathogenic/Likely pathogenic | UDPglucose-4-epimerase deficiency, Thrombocytopenia 13, syndromic |
| RS1570630665 | Health Risk | Pathogenic/Likely pathogenic | UDPglucose-4-epimerase deficiency, UDPglucose-4-epimerase deficiency |
| RS765353795 | Health Risk | Pathogenic/Likely pathogenic | UDPglucose-4-epimerase deficiency, Thrombocytopenia 13, syndromic |
| RS779828095 | Health Risk | Pathogenic/Likely pathogenic | UDPglucose-4-epimerase deficiency, Thrombocytopenia 13, syndromic |
| RS780861587 | Health Risk | Pathogenic/Likely pathogenic | UDPglucose-4-epimerase deficiency, Thrombocytopenia 13, syndromic |