GALE

GENE INFORMATION

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Gene name

GALE (HGNC Symbol)

Synonyms

SDR1E1

Description

UDP-galactose-4-epimerase (HGNC Symbol)

Entrez 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, Jul 2008]

Chromosome

1 (Chromosome progress)

Cytoband

p36.11

Chromosome location (bp)

24122089 - 24127271

Ensembl

ENSG00000117308 (version 73.37)

Entrez gene

2582

UniProt

Q14376 (UniProt - Evidence at protein level)

neXtProt

NX_Q14376

Antibodypedia

GALE antibodies
 

PROTEIN VIEW

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GALE-001
 
GALE-005
 
GALE-007
 
GALE-008
 
GALE-012
 
GALE-015
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

GALE-001 ENSP00000363621
ENST00000374497
Q14376
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Show » Show » 348 38.3 No 0
GALE-005 ENSP00000393359
ENST00000425913
Q5QPP2
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Show » Show » 195 21.5 No 0
GALE-007 ENSP00000414719
ENST00000418277
Q5QPP3
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Show » 227 25 No 0
GALE-008 ENSP00000398257
ENST00000445705
Q5QPP1
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Show » Show » 194 21.4 No 0
GALE-012 ENSP00000397045
ENST00000456977
Q5QPP9
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Show » 108 12 No 0
GALE-015 ENSP00000398585
ENST00000429356
Q5QPP4
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Show » 239 26.4 No 0