Products

Immunoprecipitation-Western Blot

Entrez GeneID

Gene Name

GALE

Gene Alias

FLJ95174, FLJ97302, SDR1E1

Gene Description

UDP-galactose-4-epimerase

Omim ID

Gene Ontology

Gene Summary

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 mental retardation, 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

Other Designations

OTTHUMP00000002991|OTTHUMP00000044857|UDP galactose-4'-epimerase|galactose-4-epimerase, UDP-|galactowaldenase|short chain dehydrogenase/reductase family 1E, member 1