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MGP001147

Record overview

MGPD IDMGP001147
Gene ID2582
SpeciesHomo sapiens (Human)
Gene NameUDP-galactose-4-epimerase
Gene Symbol GALE
SynonymsSDR1E1;
Alternate namesUDP-glucose 4-epimerase; UDP galactose-4'-epimerase; UDP-GalNAc 4-epimerase; UDP-GlcNAc 4-epimerase; UDP-N-acetylgalactosamine 4-epimerase; UDP-N-acetylglucosamine 4-epimerase; UDP-galactose 4-epimerase; galactose-4-epimerase, UDP-; galactowaldenase; short chain dehydrogenase/reductase family 1E, member 1;
Chromosome1
Map Location1p36-p35
EC Number5.1.3.2
SummaryThis 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, Jul 2008]
OrthologsView orthologs and multiple alignments for GALE

Proteins

UDP-glucose 4-epimerase
Refseq ID:NP_001121093
Protein GI:189083684
UniProt ID:Q14376
mRNA ID:NM_001127621
Length:348
RefSeq Status:
MAEKVLVTGGAGYIGSHTVLELLEAGYLPVVIDNFHNAFRGGGSLPESLRRVQELTGRSVEFEEMDILDQGALQRLFKKYSFMAVIHFAGLKAVGESVQK
PLDYYRVNLTGTIQLLEIMKAHGVKNLVFSSSATVYGNPQYLPLDEAHPTGGCTNPYGKSKFFIEEMIRDLCQADKTWNAVLLRYFNPTGAHASGCIGED
PQGIPNNLMPYVSQVAIGRREALNVFGNDYDTEDGTGVRDYIHVVDLAKGHIAALRKLKEQCGCRIYNLGTGTGYSVLQMVQAMEKASGKKIPYKVVARR
EGDVAACYANPSLAQEELGWTAALGLDRMCEDLWRWQKQNPSGFGTQA
 
UDP-glucose 4-epimerase
Refseq ID:NP_000394
Protein GI:56237023
UniProt ID:Q14376
mRNA ID:NM_000403
Length:348
RefSeq Status:
Protein sequence is identical to GI:189083684 (mRNA isoform)
 
UDP-glucose 4-epimerase
Refseq ID:NP_001008217
Protein GI:56118217
UniProt ID:Q14376
mRNA ID:NM_001008216
Length:348
RefSeq Status:
Protein sequence is identical to GI:189083684 (mRNA isoform)
 
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