UDP-galactose-4-epimerase

Summary
Gene Symbol
  • GALE
Aliases
  • SDR1E1
  • UDP-glucose 4-epimerase
  • short chain dehydrogenase/reductase family 1E, member 1
Organism
Homo sapiens (human)
NCBI Gene
2582
HGNC
4116
KEGG Gene ID
hsa:2582
PubChem
2582
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Alternative splicing
  • Carbohydrate metabolism
  • Disease variant
  • Galactose metabolism
  • Isomerase
  • NAD
  • Reference proteome
Proteins
Displaying all 2 entries
UniProt Protein Name
A0A384NL38
Q14376
  • Galactowaldenase
  • UDP-N-acetylgalactosamine 4-epimerase
  • UDP-N-acetylglucosamine 4-epimerase
  • UDP-galactose 4-epimerase
Gene Ontology (GO)
Displaying all 2 entries
GO Term Evidence Code PMID
galactose catabolic process
galactose catabolic process via UDP-galactose
GO Hierarchy
Displaying all 2 entries
GO Term Evidence Code PMID
cytosol
cytosol
OrthoDB (Group)
Group level
Eukaryota
Group Name
UDP-glucose-4-epimerase
Functional Category
  • I: Lipid transport and metabolism
  • Q: Secondary metabolites biosynthesis, transport and catabolism
  • T: Signal transduction mechanisms
KEGG BRITE Database
Orthology
K01784
Name
UDP-glucose 4-epimerase [EC:5.1.3.2]
References
Disease
Disease Ontology
Displaying all 2 entries
DO ID Disease Name Source
DOID:0111458 galactose epimerase deficiency
DOID:1588 thrombocytopenia
The Human Phenotype Ontology
Displaying entries 11 - 18 of 18 in total
HPO ID HPO Term
HP:0002013 Vomiting
HP:0002194 Delayed gross motor development
HP:0002240 Hepatomegaly
HP:0003355 Aminoaciduria
HP:0008166 Decreased beta-galactosidase activity
HP:0011463 Childhood onset
HP:0012023 Galactosuria
HP:0012024 Hypergalactosemia
Displaying 1 entry
Disease ID Disease Name
OMIM:230350
  • galactose epimerase deficiency

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: April 7, 2025