Gene Gene information from NCBI Gene database.
Entrez ID 130589
Gene name Galactose mutarotase
Gene symbol GALM
Synonyms (NCBI Gene)
BLOCK25GALAC4GLATHEL-S-63pIBD1
Chromosome 2
Chromosome location 2p22.1
Summary 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 met
miRNA miRNA information provided by mirtarbase database.
373
miRTarBase ID miRNA Experiments Reference
MIRT019674 hsa-miR-375 Microarray 20215506
MIRT037844 hsa-miR-455-3p CLASH 23622248
MIRT611792 hsa-miR-5003-3p HITS-CLIP 23824327
MIRT611791 hsa-miR-8063 HITS-CLIP 23824327
MIRT611790 hsa-miR-4698 HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
18
GO ID Ontology Definition Evidence Reference
GO:0003824 Function Catalytic activity IEA
GO:0004034 Function Aldose 1-epimerase activity IBA
GO:0004034 Function Aldose 1-epimerase activity IDA 12753898, 30451973
GO:0004034 Function Aldose 1-epimerase activity IEA
GO:0005737 Component Cytoplasm IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
137030 24063 ENSG00000143891
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96C23
Protein name Galactose mutarotase (EC 5.1.3.3) (Aldose 1-epimerase)
Protein 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 acti
PDB 1SNZ , 1SO0
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01263 Aldose_epim 20 338 Aldose 1-epimerase Family
Sequence
Sequence length 342
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Glycolysis / Gluconeogenesis
Galactose metabolism
Metabolic pathways
 
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
20
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Galactosemia 4 Pathogenic rs751902026, rs115413295, rs767153310 RCV001093635
RCV001093636
RCV001093639
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DEFICIENCY OF GALACTOSE MUTAROTASE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Familial cancer of breast Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Cataract Cataract Pubtator 30451973 Associate
★☆☆☆☆
Found in Text Mining only
Classical galactosemia Galactosemia BEFREE 30451973, 30910422
★☆☆☆☆
Found in Text Mining only
Colitis Colitis BEFREE 16542294
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 10807284, 29420429
★☆☆☆☆
Found in Text Mining only
Crohn Disease Crohn Disease BEFREE 10747815, 10807284, 11093274, 11113069, 11316159, 11318544, 11385577, 11781683, 12019468, 12105836, 12210321, 12389344, 12556233, 12557156, 12577202
View all (16 more)
★☆☆☆☆
Found in Text Mining only
Crohn Disease Crohn disease Pubtator 9636179 Associate
★☆☆☆☆
Found in Text Mining only
Galactose mutarotase deficiency Galactose Mutarotase Deficiency Orphanet
★☆☆☆☆
Found in Text Mining only
Galactosemias Galactosemia BEFREE 30451973, 30910422
★☆☆☆☆
Found in Text Mining only
Galactosemias Galactosemia Pubtator 30451973 Associate
★☆☆☆☆
Found in Text Mining only
Inflammatory Bowel Diseases Inflammatory Bowel Disease BEFREE 10439963, 10663555, 10747815, 11093274, 11309682, 11318544, 15643611, 17948929, 18246054, 19686419, 9541106, 9636179, 9797357
★☆☆☆☆
Found in Text Mining only