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UDP Galactose-4-Epimerase (GALE)

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SDR1E1; Galactowaldenase; Short Chain Dehydrogenase/Reductase Family 1E,Member 1; UDP-N-acetylgalactosamine 4-epimerase

UDP Galactose-4-Epimerase (GALE)
CCC J072
HGNC 4116
MGI 1921496
PubMed 9538513
RGD 621493
UniProt Q14376
Wiki GALE
GALE 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).

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant UDP Galactose-4-Epimerase (GALE) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to UDP Galactose-4-Epimerase (GALE) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to UDP Galactose-4-Epimerase (GALE) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for UDP Galactose-4-Epimerase (GALE) CLIA Kit Customized Service Offer
n/a ELISA Kit for UDP Galactose-4-Epimerase (GALE) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant UDP Galactose-4-Epimerase (GALE) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to UDP Galactose-4-Epimerase (GALE) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to UDP Galactose-4-Epimerase (GALE) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for UDP Galactose-4-Epimerase (GALE) CLIA Kit Customized Service Offer
n/a ELISA Kit for UDP Galactose-4-Epimerase (GALE) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant UDP Galactose-4-Epimerase (GALE) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to UDP Galactose-4-Epimerase (GALE) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to UDP Galactose-4-Epimerase (GALE) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for UDP Galactose-4-Epimerase (GALE) CLIA Kit Customized Service Offer
n/a ELISA Kit for UDP Galactose-4-Epimerase (GALE) ELISA Kit Customized Service Offer
  1. "Molecular cloning, characterization, and mapping of a full-length cDNA encoding human UDP-galactose 4'-epimerase."Biochem. Mol. Med. 56:1-7(1995) [PubMed] [Europe PMC] [Abstract]
  2. "Human UDP-galactose 4'epimerase (GALE) gene and identification of five missense mutations in patients with epimerase deficiency galactosemia."Mol. Genet. Metab. 63:26-30(1998) [PubMed] [Europe PMC] [Abstract]
  3. "Epimerase-deficiency galactosemia is not a binary condition."Am. J. Hum. Genet. 78:89-102(2006) [PubMed] [Europe PMC] [Abstract]
  4. "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
  5. "The DNA sequence and biological annotation of human chromosome 1." Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
  6. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  7. "Initial characterization of the human central proteome."BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
  8. "UDP-galactose 4'-epimerase activities toward UDP-Gal and UDP-GalNAc play different roles in the development of Drosophila melanogaster."PLoS Genet. 8:E1002721-E1002721(2012) [PubMed] [Europe PMC] [Abstract]
  9. "Comparison of dynamics of wildtype and V94M human UDP-galactose 4-epimerase-A computational perspective on severe epimerase-deficiency galactosemia."Gene 526:318-324(2013) [PubMed] [Europe PMC] [Abstract]
  10. "Determinants of function and substrate specificity in human UDP-galactose 4'-epimerase."J. Biol. Chem. 279:32796-32803(2004) [PubMed] [Europe PMC] [Abstract]
  11. "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]
  12. "Crystallographic evidence for Tyr 157 functioning as the active site Proton acceptor in human UDP-galactose 4-epimerase."Biochemistry 39:5691-5701(2000) [PubMed] [Europe PMC] [Abstract]
  13. "Human UDP-galactose 4-epimerase. Accommodation of UDP-N-acetylglucosamine within the active site."J. Biol. Chem. 276:15131-15136(2001) [PubMed] [Europe PMC] [Abstract]
  14. "Molecular basis for severe epimerase deficiency galactosemia. X-ray structure of the human V94m-substituted UDP-galactose 4-epimerase."J. Biol. Chem. 276:20617-20623(2001) [PubMed] [Europe PMC] [Abstract]
  15. "Characterization of two mutations associated with epimerase-deficiency galactosemia, by use of a yeast expression system for human UDP-galactose-4-epimerase."Am. J. Hum. Genet. 61:590-598(1997) [PubMed] [Europe PMC] [Abstract]
  16. "Identification and characterization of a mutation, in the human UDP-galactose-4-epimerase gene, associated with generalized epimerase-deficiency galactosemia."Am. J. Hum. Genet. 64:462-470(1999) [PubMed] [Europe PMC] [Abstract]
  17. "Studies of the V94M-substituted human UDPgalactose-4-epimerase enzyme associated with generalized epimerase-deficiency galactosaemia."J. Inherit. Metab. Dis. 23:713-729(2000) [PubMed] [Europe PMC] [Abstract]
  18. "A PCR-based method for detecting known mutations in the human UDP galactose-4'-epimerase gene associated with epimerase-deficiency galactosemia."Clin. Genet. 60:350-355(2001) [PubMed] [Europe PMC] [Abstract]
  19. "Functional analysis of disease-causing mutations in human UDP-galactose 4-epimerase."FEBS J. 272:6170-6177(2005) [PubMed] [Europe PMC] [Abstract]
  20. "The molecular basis of UDP-galactose-4-epimerase (GALE) deficiency galactosemia in Korean patients."Genet. Med. 7:646-649(2005) [PubMed] [Europe PMC] [Abstract]
  21. "Functional characterization of the K257R and G319E-hGALE alleles found in patients with ostensibly peripheral epimerase deficiency galactosemia."Mol. Genet. Metab. 84:32-38(2005) [PubMed] [Europe PMC] [Abstract]