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 gal... See more...

Aliases for GALE Gene

Aliases for GALE Gene

  • UDP-Galactose-4-Epimerase 2 3 5
  • UDP-Glucose 4-Epimerase 2 3 4
  • Short Chain Dehydrogenase/Reductase Family 1E, Member 1 2 3
  • UDP-N-Acetylgalactosamine 4-Epimerase 3 4
  • UDP-N-Acetylglucosamine 4-Epimerase 3 4
  • Galactose-4-Epimerase, UDP- 2 3
  • UDP-GalNAc 4-Epimerase 3 4
  • UDP-GlcNAc 4-Epimerase 3 4
  • Galactowaldenase 3 4
  • EC 5.1.3.2 4 51
  • SDR1E1 2 3
  • Epididymis Secretory Sperm Binding Protein 3
  • UDP Galactose-4'-Epimerase 3
  • UDP-Galactose 4-Epimerase 4
  • EC 5.1.3.7 4
  • EC 5.1.3 51
  • GALE 5

External Ids for GALE Gene

Previous GeneCards Identifiers for GALE Gene

  • GC01M023679
  • GC01M023194
  • GC01M023591
  • GC01M023867
  • GC01M023994
  • GC01M024122
  • GC01M022374

Summaries for GALE Gene

Entrez Gene Summary for GALE Gene

  • 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 cognitive disability, 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]

GeneCards Summary for GALE Gene

GALE (UDP-Galactose-4-Epimerase) is a Protein Coding gene. Diseases associated with GALE include Galactosemia Iii and Generalized Galactose Epimerase Deficiency. Among its related pathways are Galactose metabolism and Metabolism. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor. An important paralog of this gene is HSD3B7.

UniProtKB/Swiss-Prot Summary for GALE Gene

  • Catalyzes two distinct but analogous reactions: the reversible epimerization of UDP-glucose to UDP-galactose and the reversible epimerization of UDP-N-acetylglucosamine to UDP-N-acetylgalactosamine. The reaction with UDP-Gal plays a critical role in the Leloir pathway of galactose catabolism in which galactose is converted to the glycolytic intermediate glucose 6-phosphate. It contributes to the catabolism of dietary galactose and enables the endogenous biosynthesis of both UDP-Gal and UDP-GalNAc when exogenous sources are limited. Both UDP-sugar interconversions are important in the synthesis of glycoproteins and glycolipids.

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GALE Gene

Genomics for GALE Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for GALE Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GALE on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GALE

Top Transcription factor binding sites by QIAGEN in the GALE gene promoter:
  • AML1a
  • STAT3

Genomic Locations for GALE Gene

Genomic Locations for GALE Gene
chr1:23,795,599-23,800,781
(GRCh38/hg38)
Size:
5,183 bases
Orientation:
Minus strand
chr1:24,122,089-24,127,294
(GRCh37/hg19)
Size:
5,206 bases
Orientation:
Minus strand

Genomic View for GALE Gene

Genes around GALE on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GALE Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GALE Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GALE Gene

Proteins for GALE Gene

  • Protein details for GALE Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q14376-GALE_HUMAN
    Recommended name:
    UDP-glucose 4-epimerase
    Protein Accession:
    Q14376
    Secondary Accessions:
    • A0A024RAH5
    • B3KQ39
    • Q38G75
    • Q86W41
    • Q9BVE3
    • Q9UJB4

    Protein attributes for GALE Gene

    Size:
    348 amino acids
    Molecular mass:
    38282 Da
    Cofactor:
    Name=NAD(+); Xref=ChEBI:CHEBI:57540;
    Quaternary structure:
    • Homodimer.
    SequenceCaution:
    • Sequence=EAW95083.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=EAW95084.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=EAW95086.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=EAW95090.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=EAW95091.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=EAW95092.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=EAW95093.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
    Miscellaneous:
    • Contrary to the human enzyme, the E.coli ortholog (AC P09147) does not catalyze the epimerization of UDP-N-acetylglucosamine to UDP-N-acetylgalactosamine. Compared to the E.coli enzyme, the sugar-binding pocket of the active site is 15% larger for the human enzyme, making it possible to accommodate the acetyl group.

    Three dimensional structures from OCA and Proteopedia for GALE Gene

    Alternative splice isoforms for GALE Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GALE Gene

Selected DME Specific Peptides for GALE Gene

Q14376:
  • TVLELLE
  • GGAGYIGSH
  • SSSATVYG
  • VIHFAGLK
  • GIPNNLMP
  • IHVVDLAKGHI
  • KPLDYYR
  • YNLGTGTGYSVL
  • EKASGKKI
  • PYGKSKFFIEEMI
  • DGTGVRD
  • LLRYFNP
  • GHIAALRKL

Post-translational modifications for GALE Gene

  • Ubiquitination at Lys100 and Lys338
  • Modification sites at PhosphoSitePlus

Domains & Families for GALE Gene

Gene Families for GALE Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for GALE Gene

InterPro:
Blocks:
  • NAD-dependent epimerase/dehydratase
  • Nucleotide sugar epimerase signature
ProtoNet:

Suggested Antigen Peptide Sequences for GALE Gene

GenScript: Design optimal peptide antigens:
  • UDP-galactose 4-epimerase (GALE_HUMAN)
  • cDNA, FLJ95174, highly similar to Homo sapiens galactose-4-epimerase, UDP- (GALE), mRNA (Q38G75_HUMAN)
  • UDP-galactose-4-epimerase (Q5QPP9_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q14376

UniProtKB/Swiss-Prot:

GALE_HUMAN :
  • Belongs to the NAD(P)-dependent epimerase/dehydratase family.
Family:
  • Belongs to the NAD(P)-dependent epimerase/dehydratase family.
genes like me logo Genes that share domains with GALE: view

Function for GALE Gene

Molecular function for GALE Gene

UniProtKB/Swiss-Prot Function:
Catalyzes two distinct but analogous reactions: the reversible epimerization of UDP-glucose to UDP-galactose and the reversible epimerization of UDP-N-acetylglucosamine to UDP-N-acetylgalactosamine. The reaction with UDP-Gal plays a critical role in the Leloir pathway of galactose catabolism in which galactose is converted to the glycolytic intermediate glucose 6-phosphate. It contributes to the catabolism of dietary galactose and enables the endogenous biosynthesis of both UDP-Gal and UDP-GalNAc when exogenous sources are limited. Both UDP-sugar interconversions are important in the synthesis of glycoproteins and glycolipids.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=UDP-alpha-D-glucose = UDP-alpha-D-galactose; Xref=Rhea:RHEA:22168, ChEBI:CHEBI:58885, ChEBI:CHEBI:66914; EC=5.1.3.2; Evidence={ECO:0000269|PubMed:22654673};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=UDP-N-acetyl-alpha-D-glucosamine = UDP-N-acetyl-alpha-D-galactosamine; Xref=Rhea:RHEA:20517, ChEBI:CHEBI:57705, ChEBI:CHEBI:67138; EC=5.1.3.7; Evidence={ECO:0000269|PubMed:22654673};.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=69 uM for UDP-galactose (at 37 degrees Celsius and pH 8.8) {ECO:0000269|PubMed:11117433, ECO:0000269|PubMed:16302980}; Vmax=1.22 mmol/min/mg enzyme with UDP-galactose as substrate {ECO:0000269|PubMed:11117433, ECO:0000269|PubMed:16302980};
GENATLAS Biochemistry:
UDP-galactose-4-epimerase,38kDa

Enzyme Numbers (IUBMB) for GALE Gene

Gene Ontology (GO) - Molecular Function for GALE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0003974 UDP-N-acetylglucosamine 4-epimerase activity IEA --
GO:0003978 UDP-glucose 4-epimerase activity IEA,IDA 16302980
GO:0016853 isomerase activity IEA --
GO:0042802 identical protein binding IPI 16189514
genes like me logo Genes that share ontologies with GALE: view
genes like me logo Genes that share phenotypes with GALE: view

Human Phenotype Ontology for GALE Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GALE

No data available for Phenotypes From GWAS Catalog , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for GALE Gene

Localization for GALE Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GALE gene
Compartment Confidence
cytosol 4
plasma membrane 2
extracellular 2
mitochondrion 2
nucleus 2
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for GALE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with GALE: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for GALE Gene

Pathways & Interactions for GALE Gene

genes like me logo Genes that share pathways with GALE: view

Pathways by source for GALE Gene

1 GeneGo (Thomson Reuters) pathway for GALE Gene
  • Galactose metabolism

UniProtKB/Swiss-Prot Q14376-GALE_HUMAN

  • Pathway: Carbohydrate metabolism; galactose metabolism.

Gene Ontology (GO) - Biological Process for GALE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process IEA --
GO:0006012 galactose metabolic process IEA --
GO:0019388 galactose catabolic process IDA,TAS --
GO:0033499 galactose catabolic process via UDP-galactose IBA 21873635
genes like me logo Genes that share ontologies with GALE: view

No data available for SIGNOR curated interactions for GALE Gene

Drugs & Compounds for GALE Gene

(16) Drugs for GALE Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
NADH Approved Nutra 0
Uridine diphosphate glucose Experimental Pharma Target 0
Uridine diphosphategalactose Experimental Pharma Target 0
Phenyl-uridine-5'-diphosphate Experimental Pharma Target 0
tetramethylammonium Experimental Pharma Target 0

(10) Additional Compounds for GALE Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
dTDP-D-galactose
  • Deoxythymidine diphosphate-D-galactose
  • Thymidine 5'-[3-(D-galactopyranosyl) dihydrogen diphosphate]
5817-97-0
dTDP-D-glucose
  • dTDP-delta-Glucose
  • dTDP-Glucose
  • DTDPglucose
  • mono-a-D-Glucopyranosyl ester
  • mono-alpha-D-Glucopyranosyl ester
2196-62-5
genes like me logo Genes that share compounds with GALE: view

Transcripts for GALE Gene

mRNA/cDNA for GALE Gene

3 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
16 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GALE

Alternative Splicing Database (ASD) splice patterns (SP) for GALE Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c ^ 3a · 3b ^ 4a · 4b · 4c ^ 5 ^ 6a · 6b · 6c · 6d ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10a · 10b · 10c ^ 11a · 11b ^
SP1: - - - -
SP2: - - - - -
SP3: - - - - - - - - - - - -
SP4: - - - - - - - - - - -
SP5: - - - - - - - - -
SP6: - - - - - -
SP7: - - - -
SP8: - - - - - - - -
SP9: - - - - - -
SP10: - - - - -
SP11: - - - - - - -
SP12:
SP13:
SP14:
SP15: - - - - - - - -
SP16: - -
SP17:
SP18:
SP19:
SP20: -
SP21:

ExUns: 12a · 12b · 12c ^ 13 ^ 14a · 14b · 14c ^ 15a · 15b · 15c · 15d
SP1: - -
SP2: -
SP3:
SP4:
SP5:
SP6:
SP7: - - -
SP8:
SP9:
SP10:
SP11:
SP12:
SP13: -
SP14: -
SP15:
SP16:
SP17:
SP18: - - -
SP19:
SP20:
SP21:

Relevant External Links for GALE Gene

GeneLoc Exon Structure for
GALE

Expression for GALE Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GALE Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GALE Gene

This gene is overexpressed in Stomach (x4.4).

Protein differential expression in normal tissues from HIPED for GALE Gene

This gene is overexpressed in Skin (15.0), Oral epithelium (12.5), and Salivary gland (7.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for GALE Gene



Protein tissue co-expression partners for GALE Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GALE

SOURCE GeneReport for Unigene cluster for GALE Gene:

Hs.632380

Evidence on tissue expression from TISSUES for GALE Gene

  • Intestine(4.7)
  • Skin(4.7)
  • Liver(4.5)
  • Nervous system(3)
  • Stomach(2.8)
  • Heart(2.2)
  • Lung(2.1)
  • Kidney(2.1)
  • Blood(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for GALE Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • skeletal muscle
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • eye
  • head
  • mouth
Thorax:
  • esophagus
Abdomen:
  • intestine
  • kidney
  • liver
  • small intestine
  • spleen
  • stomach
Pelvis:
  • ovary
General:
  • blood
  • red blood cell
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with GALE: view

No data available for mRNA Expression by UniProt/SwissProt for GALE Gene

Orthologs for GALE Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for GALE Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia GALE 30 31
  • 99.71 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia GALE 30 31
  • 91.67 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia GALE 30 31
  • 90.13 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Gale 30 17 31
  • 89.11 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Gale 30
  • 89.08 (n)
Oppossum
(Monodelphis domestica)
Mammalia GALE 31
  • 87 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 22 (a)
ManyToMany
Chicken
(Gallus gallus)
Aves GALE 30 31
  • 73.93 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia GALE 31
  • 78 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia gale 30
  • 68.68 (n)
Str.6827 30
African clawed frog
(Xenopus laevis)
Amphibia 1n569-prov 30
Zebrafish
(Danio rerio)
Actinopterygii gale 30 31
  • 69.48 (n)
OneToOne
wufb05f01 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10030 30
Fruit Fly
(Drosophila melanogaster)
Insecta Gale 30 31
  • 63.95 (n)
OneToOne
CG12030 32
  • 60 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012261 30
  • 62.21 (n)
Worm
(Caenorhabditis elegans)
Secernentea C47B2.6 32
  • 57 (a)
gale-1 30 31
  • 55.29 (n)
OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GAL10 31 33
  • 27 (a)
OneToMany
Thale Cress
(Arabidopsis thaliana)
eudicotyledons UGE5 30
  • 57.77 (n)
Rice
(Oryza sativa)
Liliopsida Os05g0595100 30
  • 61.55 (n)
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes uge1 30
  • 55.96 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.8712 31
  • 54 (a)
OneToOne
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.2746 30
Species where no ortholog for GALE was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for GALE Gene

ENSEMBL:
Gene Tree for GALE (if available)
TreeFam:
Gene Tree for GALE (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GALE: view image

Paralogs for GALE Gene

Paralogs for GALE Gene

genes like me logo Genes that share paralogs with GALE: view

Variants for GALE Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GALE Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
646557 Uncertain Significance: UDPglucose-4-epimerase deficiency 23,796,509(-) C/T SYNONYMOUS_VARIANT
647056 Uncertain Significance: UDPglucose-4-epimerase deficiency 23,798,995(-) C/A MISSENSE_VARIANT
656130 Uncertain Significance: UDPglucose-4-epimerase deficiency 23,797,735(-) A/C MISSENSE_VARIANT
658280 Uncertain Significance: UDPglucose-4-epimerase deficiency 23,796,166(-) C/T MISSENSE_VARIANT
661680 Uncertain Significance: UDPglucose-4-epimerase deficiency 23,796,732(-) C/T MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for GALE Gene

Variation tolerance for GALE Gene

Residual Variation Intolerance Score: 42.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.13; 38.83% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GALE Gene

Human Gene Mutation Database (HGMD)
GALE
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GALE

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for GALE Gene

Disorders for GALE Gene

MalaCards: The human disease database

(12) MalaCards diseases for GALE Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
galactosemia iii
  • galac3
generalized galactose epimerase deficiency
  • generalized gale deficiency
erythrocyte galactose epimerase deficiency
  • erythrocyte gale deficiency
galactosemia i
  • galk deficiency
guillain-barre syndrome
  • gbs
- elite association - COSMIC cancer census association via MalaCards
Search GALE in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

GALE_HUMAN
  • Epimerase-deficiency galactosemia (EDG) [MIM:230350]: Clinical features include early-onset cataracts, liver damage, deafness and mental retardation. There are two clinically distinct forms of EDG. (1) A benign, or 'peripheral' form with no detectable GALE activity in red blood cells and characterized by mild symptoms. Some patients may suffer no symptoms beyond raised levels of galactose-1-phosphate in the blood. (2) A much rarer 'generalized' form with undetectable levels of GALE activity in all tissues and resulting in severe features such as restricted growth and mental development. {ECO:0000269 PubMed:11279193, ECO:0000269 PubMed:11903335, ECO:0000269 PubMed:15639193, ECO:0000269 PubMed:16301867, ECO:0000269 PubMed:16302980, ECO:0000269 PubMed:9326324, ECO:0000269 PubMed:9538513, ECO:0000269 PubMed:9973283}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for GALE Gene

galactosemia,type III

Additional Disease Information for GALE

genes like me logo Genes that share disorders with GALE: view

Publications for GALE Gene

  1. Identification and characterization of a mutation, in the human UDP-galactose-4-epimerase gene, associated with generalized epimerase-deficiency galactosemia. (PMID: 9973283) Wohlers TM … Fridovich-Keil JL (American journal of human genetics 1999) 3 4 23 41
  2. Molecular cloning, characterization, and mapping of a full-length cDNA encoding human UDP-galactose 4'-epimerase. (PMID: 8593531) Daude N … Reichardt JK (Biochemical and molecular medicine 1995) 2 3 4 23
  3. Epimerase-deficiency galactosemia is not a binary condition. (PMID: 16385452) Openo KK … Fridovich-Keil JL (American journal of human genetics 2006) 3 4 23
  4. Functional characterization of the K257R and G319E-hGALE alleles found in patients with ostensibly peripheral epimerase deficiency galactosemia. (PMID: 15639193) Wasilenko J … Fridovich-Keil JL (Molecular genetics and metabolism 2005) 3 4 23
  5. The molecular basis of UDP-galactose-4-epimerase (GALE) deficiency galactosemia in Korean patients. (PMID: 16301867) Park HD … Song J (Genetics in medicine : official journal of the American College of Medical Genetics 2005) 3 4 23

Products for GALE Gene

Sources for GALE Gene