GALM Gene (Protein Coding)

Galactose Mutarotase

GC02P038665
GIFtS:
46
This gene encodes an enzyme that catalyzes the epimerization of hexose sugars such as glucose and galactose. The encoded protein is expressed in the cytoplasm and has a preference for galactose. The encoded protein may be required for normal galactose metabolism by maintaining the equilibrium of alpha and beta anomers of galactose.[provided by RefSeq, Mar 2009] See more...

Aliases for GALM Gene

Aliases for GALM Gene

  • Galactose Mutarotase 2 3 4 5
  • Aldose 1-Epimerase 2 3 4
  • Aldose Mutarotase 2 3
  • Galactomutarotase 2 3
  • EC 5.1.3.3 4 51
  • Epididymis Secretory Sperm Binding Protein Li 63p 3
  • Galactose Enzyme Activator 3
  • HEL-S-63p 3
  • BLOCK25 3
  • GALAC4 3
  • GLAT 3
  • IBD1 3
  • GALM 5

External Ids for GALM Gene

Previous GeneCards Identifiers for GALM Gene

  • GC02P038867
  • GC02P038787
  • GC02P038632

Summaries for GALM Gene

Entrez Gene Summary for GALM Gene

  • This gene encodes an enzyme that catalyzes the epimerization of hexose sugars such as glucose and galactose. The encoded protein is expressed in the cytoplasm and has a preference for galactose. The encoded protein may be required for normal galactose metabolism by maintaining the equilibrium of alpha and beta anomers of galactose.[provided by RefSeq, Mar 2009]

GeneCards Summary for GALM Gene

GALM (Galactose Mutarotase) is a Protein Coding gene. Diseases associated with GALM include Galactosemia Iv and Disorder Of Galactose Metabolism. Among its related pathways are Galactose metabolism and Fructose metabolism. Gene Ontology (GO) annotations related to this gene include carbohydrate binding and aldose 1-epimerase activity.

UniProtKB/Swiss-Prot Summary for GALM Gene

  • Mutarotase that catalyzes the interconversion of beta-D-galactose and alpha-D-galactose during galactose metabolism (PubMed:12753898). Beta-D-galactose is metabolized in the liver into glucose 1-phosphate, the primary metabolic fuel, by the action of four enzymes that constitute the Leloir pathway: GALM, GALK1 (galactokinase), GALT (galactose-1-phosphate uridylyltransferase) and GALE (UDP-galactose-4'-epimerase) (PubMed:30451973). Involved in the maintenance of the equilibrium between the beta- and alpha-anomers of galactose, therefore ensuring a sufficient supply of the alpha-anomer for GALK1 (PubMed:12753898). Also active on D-glucose although shows a preference for galactose over glucose (PubMed:12753898).

Gene Wiki entry for GALM Gene

Additional gene information for GALM Gene

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

Genomics for GALM Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data

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

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

Top Transcription factor binding sites by QIAGEN in the GALM gene promoter:
  • AML1a
  • ATF6
  • FOXO4
  • GCNF
  • GCNF-1
  • GCNF-2
  • LyF-1
  • Olf-1
  • p53
  • RSRFC4

Genomic Locations for GALM Gene

Latest Assembly
chr2:38,665,922-38,741,237
(GRCh38/hg38)
Size:
75,316 bases
Orientation:
Plus strand

Previous Assembly
chr2:38,893,256-38,961,907
(GRCh37/hg19 by Entrez Gene)
Size:
68,652 bases
Orientation:
Plus strand

chr2:38,893,052-38,968,379
(GRCh37/hg19 by Ensembl)
Size:
75,328 bases
Orientation:
Plus strand

Genomic View for GALM Gene

Genes around GALM on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for GALM Gene

Proteins for GALM Gene

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  1. Antibodies for research
  2. Protein products for research
  3. Assay products for research

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

    Protein Symbol:
    Q96C23-GALM_HUMAN
    Recommended name:
    Galactose mutarotase
    Protein Accession:
    Q96C23
    Secondary Accessions:
    • Q53RY1
    • Q8NIA2
    • V9HWA8

    Protein attributes for GALM Gene

    Size:
    342 amino acids
    Molecular mass:
    37766 Da
    Quaternary structure:
    • Monomer.
    SequenceCaution:
    • Sequence=AAL62475.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for GALM Gene

neXtProt entry for GALM Gene

Protein Expression for GALM Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for GALM Gene

Q96C23:
  • GFDKVLWTP
  • YPKHSGFCLETQ
  • LRPGEEY
  • TNHSYFNL
  • WPDAVNQP
  • ANRIAKG
  • GTAFDLRKPVELG
  • VDIISWGCTITAL
  • FCARVHHA
  • QFYTGNFLDGTLKGK
  • GFDHNFCLK

Post-translational modifications for GALM Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for GALM Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for GALM Gene

Gene Families for GALM Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for GALM Gene

InterPro:
Blocks:
  • Aldose 1-epimerase
ProtoNet:

Suggested Antigen Peptide Sequences for GALM Gene

GenScript: Design optimal peptide antigens:
  • Galactose mutarotase (GALM_HUMAN)
  • cDNA FLJ75695, highly similar to Homo sapiens galactose mutarotase (aldose 1-epimerase) (GALM), mRNA (Q53RY1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96C23

UniProtKB/Swiss-Prot:

GALM_HUMAN :
  • Belongs to the aldose epimerase family.
Family:
  • Belongs to the aldose epimerase family.
genes like me logo Genes that share domains with GALM: view

Function for GALM Gene

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  4. Inhibitory RNAs for research
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  6. Cell Lines for research

Molecular function for GALM Gene

UniProtKB/Swiss-Prot Function:
Mutarotase that catalyzes the interconversion of beta-D-galactose and alpha-D-galactose during galactose metabolism (PubMed:12753898). Beta-D-galactose is metabolized in the liver into glucose 1-phosphate, the primary metabolic fuel, by the action of four enzymes that constitute the Leloir pathway: GALM, GALK1 (galactokinase), GALT (galactose-1-phosphate uridylyltransferase) and GALE (UDP-galactose-4'-epimerase) (PubMed:30451973). Involved in the maintenance of the equilibrium between the beta- and alpha-anomers of galactose, therefore ensuring a sufficient supply of the alpha-anomer for GALK1 (PubMed:12753898). Also active on D-glucose although shows a preference for galactose over glucose (PubMed:12753898).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=alpha-D-galactose = beta-D-galactose; Xref=Rhea:RHEA:28675, ChEBI:CHEBI:27667, ChEBI:CHEBI:28061; EC=5.1.3.3; Evidence={ECO:0000269|PubMed:12753898};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=alpha-D-glucose = beta-D-glucose; Xref=Rhea:RHEA:10264, ChEBI:CHEBI:15903, ChEBI:CHEBI:17925; EC=5.1.3.3; Evidence={ECO:0000269|PubMed:12753898};.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=37 mM for galactose (at 20 degrees Celsius) {ECO:0000269|PubMed:12753898}; KM=54 mM for glucose (at 20 degrees Celsius) {ECO:0000269|PubMed:12753898}; Note=kcat is 12000 s(-1) with galactose as substrate (PubMed:12753898). kcat is 4900 s(-1) with glucose as substrate (PubMed:12753898). {ECO:0000269|PubMed:12753898};

Enzyme Numbers (IUBMB) for GALM Gene

Phenotypes From GWAS Catalog for GALM Gene

Gene Ontology (GO) - Molecular Function for GALM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0004034 aldose 1-epimerase activity IEA,IDA 12753898
GO:0016853 isomerase activity IEA --
GO:0030246 carbohydrate binding IEA --
GO:0042803 NOT protein homodimerization activity IDA 12753898
genes like me logo Genes that share ontologies with GALM: view
genes like me logo Genes that share phenotypes with GALM: view

Human Phenotype Ontology for GALM Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for research

Inhibitory RNAs for research

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

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for GALM Gene

Localization for GALM Gene

Subcellular locations from UniProtKB/Swiss-Prot for GALM Gene

Cytoplasm.

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 GALM gene
Compartment Confidence
extracellular 4
nucleus 3
cytosol 3
mitochondrion 2
plasma membrane 1
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
golgi apparatus 1

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for GALM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0070062 extracellular exosome HDA 19056867
genes like me logo Genes that share ontologies with GALM: view

Pathways & Interactions for GALM Gene

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

Pathways by source for GALM Gene

1 GeneGo (Thomson Reuters) pathway for GALM Gene
  • Glycogen metabolism

UniProtKB/Swiss-Prot Q96C23-GALM_HUMAN

  • Pathway: Carbohydrate metabolism; hexose metabolism.
  • Pathway: Carbohydrate metabolism; galactose metabolism.

Gene Ontology (GO) - Biological Process for GALM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process IEA,IDA 12753898
GO:0006006 glucose metabolic process IBA,IDA 12753898
GO:0006012 galactose metabolic process IEA,IDA 12753898
GO:0019318 hexose metabolic process IEA --
GO:0033499 galactose catabolic process via UDP-galactose IBA 21873635
genes like me logo Genes that share ontologies with GALM: view

No data available for SIGNOR curated interactions for GALM Gene

Drugs & Compounds for GALM Gene

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(5) Drugs for GALM Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
D-glucose Approved, Experimental, Investigational, Vet_approved Pharma Target 0
alpha-D-quinovopyranose Experimental Pharma Target 0
alpha-D-Xylopyranose Experimental Pharma Target 0
Alpha-L-Arabinose Experimental Pharma Target 0

(4) Additional Compounds for GALM Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
alpha-D-Glucose
  • alpha-D-GLC
  • alpha-Dextrose
  • a-D-GLC
  • Α-D-GLC
  • a-Dextrose
 492-62-6
genes like me logo Genes that share compounds with GALM: view

Transcripts for GALM Gene

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mRNA/cDNA for GALM Gene

1 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

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

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

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10
SP1: - -
SP2: -
SP3: - -
SP4:
SP5:

Relevant External Links for GALM Gene

GeneLoc Exon Structure for
GALM

Expression for GALM Gene

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  1. Primer products for research
  2. Gene Expression Assays for research

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

mRNA expression in normal human tissues for GALM Gene
mRNA expression by GTEx for GALM GenemRNA expression by BioGPS for GALM Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Adrenal Gland (x10.1), Kidney - Cortex (x4.3), and Liver (x4.0).

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



Protein tissue co-expression partners for GALM Gene

- Elite partner

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

SOURCE GeneReport for Unigene cluster for GALM Gene:

Hs.435012

Evidence on tissue expression from TISSUES for GALM Gene

  • Liver(4.4)
  • Nervous system(4.4)
  • Skin(4.3)
  • Kidney(3.1)
  • Intestine(2.1)
genes like me logo Genes that share expression patterns with GALM: view

No data available for Protein differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for GALM Gene

Orthologs for GALM Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for GALM Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia GALM 31
  • 99 (a)
 OneToOne
Cow
(Bos Taurus)
 Mammalia GALM 30 31
  • 89.57 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia GALM 30 31
  • 87.62 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Galm 30
  • 86.35 (n)
Mouse
(Mus musculus)
 Mammalia Galm 30 17 31
  • 85.67 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia GALM 31
  • 82 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia GALM 31
  • 60 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves GALM 30 31
  • 67.54 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia GALM 31
  • 74 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia galm 30
  • 68.91 (n)
Str.19129 30
Zebrafish
(Danio rerio)
 Actinopterygii galm 30 31
  • 63.81 (n)
 OneToOne
Dr.18948 30
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP004376 30
  • 54.22 (n)
Fruit Fly
(Drosophila melanogaster)
 Insecta CG10467 31
  • 43 (a)
 OneToMany
CG32445 31
  • 39 (a)
 OneToMany
CG4988 31
  • 37 (a)
 OneToMany
CG32444 31
  • 36 (a)
 OneToMany
CG10996 31
  • 32 (a)
 OneToMany
Worm
(Caenorhabditis elegans)
 Secernentea Y19D10A.16 31
  • 32 (a)
 OneToMany
C01B4.6 31
  • 32 (a)
 OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes -- 31
  • 32 (a)
 OneToMany
-- 31
  • 32 (a)
 OneToMany
-- 33
Thale Cress
(Arabidopsis thaliana)
 eudicotyledons AT3G17940 30
  • 54.79 (n)
Rice
(Oryza sativa)
 Liliopsida Os10g0155500 30
  • 56.15 (n)
Os.20067 30
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 45 (a)
 OneToOne
Species where no ortholog for GALM was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • Fission Yeast (Schizosaccharomyces pombe)
  • 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)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • 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 GALM Gene

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

Paralogs for GALM Gene

(2) SIMAP similar genes for GALM Gene using alignment to 5 proteins:

  • GALM_HUMAN
  • B8ZZ75_HUMAN
  • F8WB82_HUMAN
  • H7C1B5_HUMAN
  • H7C320_HUMAN
genes like me logo Genes that share paralogs with GALM: view

No data available for Paralogs for GALM Gene

Variants for GALM Gene

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

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
rs114440198 - p.Gly142Arg
rs6741892 - p.Asn190Tyr
VAR_083549 - p.Arg267Gly

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for GALM Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for GALM Gene

Variant ID Type Subtype PubMed ID
dgv6790n54 CNV gain 21841781
dgv6791n54 CNV gain 21841781
esv2421335 CNV duplication 20811451
esv24300 CNV loss 19812545
esv2667436 CNV deletion 23128226
esv2667715 CNV deletion 23128226
esv2719950 CNV deletion 23290073
esv2763640 CNV gain 21179565
esv3575232 CNV gain 25503493
esv3590419 CNV loss 21293372
esv3590420 CNV loss 21293372
esv3590421 CNV gain 21293372
esv3891860 CNV loss 25118596
nsv1114076 CNV deletion 24896259
nsv1116372 CNV deletion 24896259
nsv213847 CNV deletion 16902084
nsv441752 CNV gain 18776908
nsv512771 CNV insertion 21212237
nsv518220 CNV gain 19592680
nsv581485 CNV gain 21841781
nsv581487 CNV gain 21841781
nsv817751 CNV gain 17921354
nsv819664 CNV loss 19587683
nsv820974 CNV duplication 20802225
nsv828975 CNV loss 20364138
nsv828986 CNV loss 20364138
nsv828997 CNV loss 20364138
nsv961401 CNV duplication 23825009
nsv9646 CNV loss 18304495

Variation tolerance for GALM Gene

Residual Variation Intolerance Score: 48.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.73; 83.13% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GALM Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
GALM

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GALM Gene

Disorders for GALM Gene

MalaCards: The human disease database

(6) MalaCards diseases for GALM Gene - From: OMI, CVR, ORP, COP, and GCD

Disorder Aliases PubMed IDs
galactosemia iv
  • galac4
disorder of galactose metabolism
galactosemia i
  • galac1
partial optic atrophy
dirofilariasis
  • dirofilaria infectious disease
- elite association - COSMIC cancer census association via MalaCards
Search GALM in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

GALM_HUMAN
  • Note=Biallelic loss-of-function variants resulting in GALM deficiency may be a cause of galactosemia, an autosomal recessive disorder of galactose metabolism. {ECO:0000269 PubMed:30451973}.

Additional Disease Information for GALM

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with GALM: view

No data available for Genatlas for GALM Gene

Publications for GALM Gene

  1. Identification and characterisation of human aldose 1-epimerase. (PMID: 12753898) Timson DJ … Reece RJ (FEBS letters 2003) 2 3 4 23
  2. Molecular structure of human galactose mutarotase. (PMID: 15026423) Thoden JB … Holden HM (The Journal of biological chemistry 2004) 3 4 23
  3. Biallelic GALM pathogenic variants cause a novel type of galactosemia. (PMID: 30451973) Wada Y … Kure S (Genetics in medicine : official journal of the American College of Medical Genetics 2019) 4 74
  4. A non-synonymous polymorphism in galactose mutarotase (GALM) is associated with serotonin transporter binding potential in the human thalamus: results of a genome-wide association study. (PMID: 21339755) Liu X … McMahon FJ (Molecular psychiatry 2011) 3 41
  5. Galactomutarotase and other galactose-related genes are rapidly induced by retinoic acid in human myeloid cells. (PMID: 18052213) Pai T … Ross AC (Biochemistry 2007) 3 23

ExternalLinks

View latest publications for GALM gene in Mastermind

Products for GALM Gene

Sources for GALM Gene