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 |
|---|---|---|---|
| RS1035870470 | Health Risk | Conflicting classifications of pathogenicity | UDPglucose-4-epimerase deficiency, UDPglucose-4-epimerase deficiency |
| RS121908046 | Health Risk | Conflicting classifications of pathogenicity | UDPglucose-4-epimerase deficiency, Thrombocytopenia 13, syndromic |
| RS1243531358 | Health Risk | Conflicting classifications of pathogenicity | UDPglucose-4-epimerase deficiency, UDPglucose-4-epimerase deficiency |
| RS138148991 | Health Risk | Conflicting classifications of pathogenicity | UDPglucose-4-epimerase deficiency, UDPglucose-4-epimerase deficiency |
| RS138518245 | Health Risk | Conflicting classifications of pathogenicity | UDPglucose-4-epimerase deficiency, UDPglucose-4-epimerase deficiency |
| RS144723215 | Health Risk | Conflicting classifications of pathogenicity | UDPglucose-4-epimerase deficiency, UDPglucose-4-epimerase deficiency |
| RS1457875051 | Health Risk | Conflicting classifications of pathogenicity | UDPglucose-4-epimerase deficiency, Thrombocytopenia 13, syndromic |
| RS1463746382 | Health Risk | Conflicting classifications of pathogenicity | UDPglucose-4-epimerase deficiency, UDPglucose-4-epimerase deficiency |
| RS199622680 | Health Risk | Conflicting classifications of pathogenicity | UDPglucose-4-epimerase deficiency, UDPglucose-4-epimerase deficiency |
| RS200182186 | Health Risk | Conflicting classifications of pathogenicity | UDPglucose-4-epimerase deficiency, UDPglucose-4-epimerase deficiency |
| RS200584878 | Health Risk | Conflicting classifications of pathogenicity | UDPglucose-4-epimerase deficiency, UDPglucose-4-epimerase deficiency |
| RS369293480 | Health Risk | Conflicting classifications of pathogenicity | UDPglucose-4-epimerase deficiency, UDPglucose-4-epimerase deficiency |
| RS370761057 | Health Risk | Conflicting classifications of pathogenicity | UDPglucose-4-epimerase deficiency, UDPglucose-4-epimerase deficiency |
| RS377557637 | Health Risk | Conflicting classifications of pathogenicity | UDPglucose-4-epimerase deficiency, UDPglucose-4-epimerase deficiency |
| RS566884215 | Health Risk | Conflicting classifications of pathogenicity | UDPglucose-4-epimerase deficiency, UDPglucose-4-epimerase deficiency |
| RS571625657 | Health Risk | Conflicting classifications of pathogenicity | UDPglucose-4-epimerase deficiency, UDPglucose-4-epimerase deficiency |
| RS727503943 | Health Risk | Conflicting classifications of pathogenicity | UDPglucose-4-epimerase deficiency, UDPglucose-4-epimerase deficiency |
| RS748354696 | Health Risk | Conflicting classifications of pathogenicity | UDPglucose-4-epimerase deficiency, UDPglucose-4-epimerase deficiency |
| RS751079525 | Health Risk | Conflicting classifications of pathogenicity | UDPglucose-4-epimerase deficiency, UDPglucose-4-epimerase deficiency |
| RS764448821 | Health Risk | Conflicting classifications of pathogenicity | UDPglucose-4-epimerase deficiency, UDPglucose-4-epimerase deficiency |
| RS764909409 | Health Risk | Conflicting classifications of pathogenicity | UDPglucose-4-epimerase deficiency, Inborn genetic diseases, Thrombocytopenia 13 |
| RS780517804 | Health Risk | Conflicting classifications of pathogenicity | UDPglucose-4-epimerase deficiency, Thrombocytopenia 13, syndromic |
| RS28940884 | Health Risk | Conflicting classifications of pathogenicity; other | UDPglucose-4-epimerase deficiency, GALE-related disorder, UDPglucose-4-epimerase deficiency |
| RS28940885 | Health Risk | Conflicting classifications of pathogenicity; other | UDPglucose-4-epimerase deficiency, GALE-related disorder, UDPglucose-4-epimerase deficiency |
| RS121908045 | Health Risk | Likely pathogenic | UDPglucose-4-epimerase deficiency, Thrombocytopenia 13, syndromic |
| RS1261697960 | Health Risk | Likely pathogenic | UDPglucose-4-epimerase deficiency, UDPglucose-4-epimerase deficiency |
| RS137853861 | Health Risk | Likely pathogenic | UDPglucose-4-epimerase deficiency, Thrombocytopenia 13, syndromic |
| RS1388106856 | Health Risk | Likely pathogenic | UDPglucose-4-epimerase deficiency, Thrombocytopenia 13, syndromic |
| RS1456836841 | Health Risk | Likely pathogenic | UDPglucose-4-epimerase deficiency, Thyroid cancer, nonmedullary |
| RS1638960014 | Health Risk | Likely pathogenic | UDPglucose-4-epimerase deficiency, UDPglucose-4-epimerase deficiency |
| RS2521288079 | Health Risk | Likely pathogenic | UDPglucose-4-epimerase deficiency, UDPglucose-4-epimerase deficiency |
| RS2521292161 | Health Risk | Likely pathogenic | UDPglucose-4-epimerase deficiency, UDPglucose-4-epimerase deficiency |
| RS2521310914 | Health Risk | Likely pathogenic | UDPglucose-4-epimerase deficiency, UDPglucose-4-epimerase deficiency |
| RS368637540 | Health Risk | Likely pathogenic | UDPglucose-4-epimerase deficiency, GALE-related disorder, UDPglucose-4-epimerase deficiency |
| RS747715399 | Health Risk | Likely pathogenic | UDPglucose-4-epimerase deficiency, Thrombocytopenia 13, syndromic |
| RS758564937 | Health Risk | Likely pathogenic | UDPglucose-4-epimerase deficiency, UDPglucose-4-epimerase deficiency |
| RS773462569 | Health Risk | Likely pathogenic | UDPglucose-4-epimerase deficiency, Thrombocytopenia 13, syndromic |
| RS1351636899 | Health Risk | Pathogenic | UDPglucose-4-epimerase deficiency, UDPglucose-4-epimerase deficiency |
| RS1638974195 | Health Risk | Pathogenic | UDPglucose-4-epimerase deficiency, UDPglucose-4-epimerase deficiency |
| RS1638981096 | Health Risk | Pathogenic | UDPglucose-4-epimerase deficiency, UDPglucose-4-epimerase deficiency |
| RS1638984968 | Health Risk | Pathogenic | UDPglucose-4-epimerase deficiency, UDPglucose-4-epimerase deficiency |
| RS1639038679 | Health Risk | Pathogenic | UDPglucose-4-epimerase deficiency, UDPglucose-4-epimerase deficiency |
| RS2521274472 | Health Risk | Pathogenic | UDPglucose-4-epimerase deficiency, UDPglucose-4-epimerase deficiency |
| RS2521285775 | Health Risk | Pathogenic | UDPglucose-4-epimerase deficiency, UDPglucose-4-epimerase deficiency |
| RS2521288550 | Health Risk | Pathogenic | UDPglucose-4-epimerase deficiency, UDPglucose-4-epimerase deficiency |
| RS2521288727 | Health Risk | Pathogenic | UDPglucose-4-epimerase deficiency, UDPglucose-4-epimerase deficiency |
| RS2521294004 | Health Risk | Pathogenic | UDPglucose-4-epimerase deficiency, UDPglucose-4-epimerase deficiency |
| RS2521319607 | Health Risk | Pathogenic | Thrombocytopenia 13, syndromic, Thrombocytopenia 13 |
| RS2521320879 | Health Risk | Pathogenic | UDPglucose-4-epimerase deficiency, UDPglucose-4-epimerase deficiency |
| RS2521326158 | Health Risk | Pathogenic | UDPglucose-4-epimerase deficiency, UDPglucose-4-epimerase deficiency |