GALM Gene

Name	galactose mutarotase (aldose 1-epimerase)
Description	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]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n GALM, which encodes galactose mutarotase, is best known for catalyzing the reversible interconversion of the α‐ and β‐anomers of D–galactose—a critical reaction in the Leloir pathway of galactose metabolism (see."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": " Deficiencies in GALM disrupt this first metabolic step and have been shown to cause a distinct type of galactosemia (type IV), which in affected patients can manifest as early onset cataracts and may be amenable to treatment strategies aimed at lowering blood galactose levels, for example by administering β–galactosidase (see."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "3", "end_ref": "6"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n In addition to its canonical role in carbohydrate metabolism, altered GALM expression has been associated with broader cellular and organismal processes. For example, reduced GALM expression in skeletal muscle has been linked to decreased glucose metabolic gene expression downstream of zinc transporter Zip7, suggesting that GALM may influence glycemic control (see."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "7"}]}, {"type": "t", "text": " Conversely, elevated GALM expression has been detected in glioma tissues where it forms part of a glycolysis-related gene signature that correlates with poor patient prognosis (see."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "8"}]}, {"type": "t", "text": " Furthermore, GALM has emerged as a downstream target of the transcription factor CEBPB during the differentiation of leukemia cells, and studies in bacteria indicate that GALM activity can modulate CRISPR–Cas expression, thereby linking cellular metabolic status to immune regulation (see."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "9"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n Finally, genetic association studies have implicated GALM variants with complex traits such as musical aptitude, suggesting that beyond its well‐established enzymatic role, GALM may also contribute to neurobehavioral phenotypes (see."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "11"}]}, {"type": "t", "text": " Together, these findings underscore GALM’s central role in carbohydrate metabolism while highlighting emerging evidence for additional functions in metabolic regulation, cellular differentiation, immune response, and even behavioral traits.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "David J Timson, Richard J Reece "}, {"type": "b", "children": [{"type": "t", "text": "Identification and characterisation of human aldose 1-epimerase."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "FEBS Lett (2003)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/s0014-5793(03)00364-8"}], "href": "https://doi.org/10.1016/s0014-5793(03"}, {"type": "t", "text": "00364-8) PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12753898"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12753898"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "James B Thoden, David J Timson, Richard J Reece, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Molecular structure of human galactose mutarotase."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2004)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M402347200"}], "href": "https://doi.org/10.1074/jbc.M402347200"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15026423"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15026423"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Yoichi Wada, Atsuo Kikuchi, Natsuko Arai-Ichinoi, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Biallelic GALM pathogenic variants cause a novel type of galactosemia."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Genet Med (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/s41436-018-0340-x"}], "href": "https://doi.org/10.1038/s41436-018-0340-x"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "30451973"}], "href": "https://pubmed.ncbi.nlm.nih.gov/30451973"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Havva Yazici, Ebru Canda, Yasemin Atik Altınok, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Two siblings with galactose mutarotase deficiency: Clinical differences."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "JIMD Rep (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/jmd2.12263"}], "href": "https://doi.org/10.1002/jmd2.12263"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "35028268"}], "href": "https://pubmed.ncbi.nlm.nih.gov/35028268"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Samantha Banford, David J Timson "}, {"type": "b", "children": [{"type": "t", "text": "The structural and molecular biology of type IV galactosemia."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Biochimie (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.biochi.2020.11.001"}], "href": "https://doi.org/10.1016/j.biochi.2020.11.001"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "33181226"}], "href": "https://pubmed.ncbi.nlm.nih.gov/33181226"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Yoichi Wada, Natsuko Arai-Ichinoi, Atsuo Kikuchi, et al. "}, {"type": "b", "children": [{"type": "t", "text": "β-Galactosidase therapy can mitigate blood galactose elevation after an oral lactose load in galactose mutarotase deficiency."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Inherit Metab Dis (2022)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/jimd.12444"}], "href": "https://doi.org/10.1002/jimd.12444"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "34611916"}], "href": "https://pubmed.ncbi.nlm.nih.gov/34611916"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Stephen A Myers, Alex Nield, Guat-Siew Chew, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The zinc transporter, Slc39a7 (Zip7) is implicated in glycaemic control in skeletal muscle cells."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS One (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pone.0079316"}], "href": "https://doi.org/10.1371/journal.pone.0079316"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24265765"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24265765"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Jiacheng Xu, Yuduo Guo, Weihai Ning, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Comprehensive Analyses of Glucose Metabolism in Glioma Reveal the Glioma-Promoting Effect of GALM."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Front Cell Dev Biol (2022)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.3389/fcell.2021.717182"}], "href": "https://doi.org/10.3389/fcell.2021.717182"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "35127693"}], "href": "https://pubmed.ncbi.nlm.nih.gov/35127693"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "Lei Yu, Yang-De Zhang, Jun Zhou, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Identification of target genes of transcription factor CEBPB in acute promyelocytic leukemia cells induced by all-trans retinoic acid."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Asian Pac J Trop Med (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/S1995-7645(13)60077-2"}], "href": "https://doi.org/10.1016/S1995-7645(13"}, {"type": "t", "text": "60077-2) PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23711709"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23711709"}]}, {"type": "r", "ref": 10, "children": [{"type": "t", "text": "Hannah G Hampton, Adrian G Patterson, James T Chang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "GalK limits type I-F CRISPR-Cas expression in a CRP-dependent manner."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "FEMS Microbiol Lett (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/femsle/fnz137"}], "href": "https://doi.org/10.1093/femsle/fnz137"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "31226710"}], "href": "https://pubmed.ncbi.nlm.nih.gov/31226710"}]}, {"type": "r", "ref": 11, "children": [{"type": "t", "text": "Krzysztof Szyfter, Michał P Witt "}, {"type": "b", "children": [{"type": "t", "text": "How far musicality and perfect pitch are derived from genetic factors?"}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Appl Genet (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s13353-020-00563-7"}], "href": "https://doi.org/10.1007/s13353-020-00563-7"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "32533421"}], "href": "https://pubmed.ncbi.nlm.nih.gov/32533421"}]}]}]}
Synonyms	HEL-S-63P, GLAT, BLOCK25
Proteins	GALM_HUMAN
NCBI Gene ID	130589
API
Download Associations
Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

GALM has 5,163 functional associations with biological entities spanning 9 categories (molecular profile, organism, disease, phenotype or trait, functional term, phrase or reference, chemical, structural feature, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 108 datasets.

Click the + buttons to view associations for GALM from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

GALM Gene

Functional Associations

Please acknowledge the Harmonizome in your publications by citing the following reference(s):

	Dataset	Summary
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of GALM gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles	tissues with high or low expression of GALM gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles	tissue samples with high or low expression of GALM gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray	tissue samples with high or low expression of GALM gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq	tissue samples with high or low expression of GALM gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset.
	Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of GALM gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
	BioGPS Human Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of GALM gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
	BioGPS Mouse Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of GALM gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of GALM gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
	CCLE Cell Line Gene Expression Profiles	cell lines with high or low expression of GALM gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Proteomics	Cell lines associated with GALM protein from the CCLE Cell Line Proteomics dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with GALM gene from the CellMarker Gene-Cell Type Associations dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of GALM gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of GALM gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
	ChEA Transcription Factor Targets 2022	transcription factors binding the promoter of GALM gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	ClinVar Gene-Phenotype Associations 2025	phenotypes associated with GALM gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing GALM protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing GALM protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with GALM protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025	cellular components co-occuring with GALM protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	COSMIC Cell Line Gene CNV Profiles	cell lines with high or low copy number of GALM gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with GALM gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with GALM gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with GALM gene/protein from the curated CTD Gene-Disease Associations dataset.
	dbGAP Gene-Trait Associations	traits associated with GALM gene in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset.
	DepMap CRISPR Gene Dependency	cell lines with fitness changed by GALM gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores	diseases associated with GALM gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with GALM gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	diseases co-occuring with GALM gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
	DisGeNET Gene-Disease Associations	diseases associated with GALM gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	ENCODE Histone Modification Site Profiles	histone modification site profiles with high histone modification abundance at GALM gene from the ENCODE Histone Modification Site Profiles dataset.
	ENCODE Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of GALM gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of GALM gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset.
	ESCAPE Omics Signatures of Genes and Proteins for Stem Cells	PubMedIDs of publications reporting gene signatures containing GALM from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.
	GAD Gene-Disease Associations	diseases associated with GALM gene in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
	GeneRIF Biological Term Annotations	biological terms co-occuring with GALM gene in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.
	GeneSigDB Published Gene Signatures	PubMedIDs of publications reporting gene signatures containing GALM from the GeneSigDB Published Gene Signatures dataset.
	GEO Signatures of Differentially Expressed Genes for Diseases	disease perturbations changing expression of GALM gene from the GEO Signatures of Differentially Expressed Genes for Diseases dataset.
	GEO Signatures of Differentially Expressed Genes for Gene Perturbations	gene perturbations changing expression of GALM gene from the GEO Signatures of Differentially Expressed Genes for Gene Perturbations dataset.
	GEO Signatures of Differentially Expressed Genes for Kinase Perturbations	kinase perturbations changing expression of GALM gene from the GEO Signatures of Differentially Expressed Genes for Kinase Perturbations dataset.