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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
External Ids for GALM Gene
- HGNC: 24063
- Entrez Gene: 130589
- Ensembl: ENSG00000143891
- OMIM: 137030
- UniProtKB: Q96C23
Previous GeneCards Identifiers for GALM Gene
- GC02P038867
- GC02P038787
- GC02P038632
Summaries 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 Glucose metabolism and 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).
Additional gene information for GALM Gene
- HGNC(24063)
- Entrez Gene(130589)
- Ensembl(ENSG00000143891)
- OMIM(137030)
- UniProtKB(Q96C23)
- Open Targets Platform(ENSG00000143891)
- Search for GALM at DataMed
- Search for GALM at HumanCyc
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
Promoters and enhancers for GALM 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 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
Genomic Locations for GALM Gene
- chr2:38,665,922-38,741,237
- (GRCh38/hg38)
- Size:
- 75,316 bases
- Orientation:
- Plus strand
- chr2:38,893,052-38,968,379
- (GRCh37/hg19)
- 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:
-
- 2p22.1 by HGNC
- 2p22.1 by Entrez Gene
- 2p22.1 by Ensembl
GALM Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for GALM Gene
Proteins for GALM Gene
-
Protein details for GALM Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q96C23-GALM_HUMAN
- Recommended name:
- Galactose mutarotase
- Protein Accession:
- Q96C23
- 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};
Protein Expression for GALM Gene
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
Other Protein References for GALM Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- G Biosciences Immunotag™ GALM Antibody
- Novus Biologicals Antibodies for GALM
- Invitrogen Antibodies for GALM (AFLGC-GALM)
-
Biorbyt antibodies for GALM
-
Santa Cruz Biotechnology (SCBT) Antibodies for GALM
- Sino Biological Antibodies for GALM
Protein Products
- G Biosciences Human Aldose 1-epimerase/GALM, Liquid
- Search Origene for MassSpec and Protein Over-expression Lysates for GALM
- Origene Custom Protein Services for GALM
- ProSpec Recombinant Proteins for GALM
-
ProSci Proteins for GALM
-
Abcam proteins for GALM
Assay Products
- antibodies-online: Show 8 available GALM Elisa Kits ranked by validation data
- Compare Top GALM Elisa Kits
-
Quality Products:
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- Family:
-
- Belongs to the aldose epimerase family.
Function for GALM Gene
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
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003824 | catalytic activity | IEA | -- |
| GO:0004034 | aldose 1-epimerase activity | IBA,IDA | 12753898 |
| GO:0016853 | isomerase activity | IEA | -- |
| GO:0030246 | carbohydrate binding | IEA | -- |
| GO:0042803 | NOT protein homodimerization activity | IDA | 12753898 |
Phenotypes for GALM Gene
- GenomeRNAi human phenotypes for GALM:
-
- no effect
- Synthetic lethal with MLN4924 (a NAE inhibitor)
- Increased viability with MLN4924 (a NAE inhibitor)
- Increased viability
- Decreased viability after Maraba virus infection
- Increased S DNA content
- Increased HPV18 LCR reporter activity
- Increased number of mitotic cells
- Decreased viability (cell death)
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for GALM - Select products 50% OFF >
- * GALM CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for GALM
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for GALM
-
Santa Cruz Biotechnology (SCBT) CRISPR for GALM
miRNA for GALM Gene
- miRTarBase miRNAs that target GALM
-
- hsa-miR-375 (MIRT019674)
- hsa-miR-455-3p (MIRT037844)
- hsa-miR-335-3p (MIRT611786)
- hsa-miR-1305 (MIRT611787)
- hsa-miR-607 (MIRT611788)
- hsa-miR-1-5p (MIRT611789)
- hsa-miR-4698 (MIRT611790)
- hsa-miR-8063 (MIRT611791)
- hsa-miR-5003-3p (MIRT611792)
- hsa-miR-4803 (MIRT635734)
- hsa-miR-498 (MIRT664637)
- hsa-miR-4279 (MIRT664638)
- hsa-miR-3977 (MIRT664639)
- hsa-miR-3157-5p (MIRT664640)
- hsa-miR-1976 (MIRT664641)
- hsa-miR-3653-5p (MIRT664642)
- hsa-miR-6893-3p (MIRT664643)
- hsa-miR-370-3p (MIRT664644)
- hsa-miR-4726-3p (MIRT664645)
- hsa-miR-6764-5p (MIRT664646)
- hsa-miR-1915-3p (MIRT664647)
- hsa-miR-6840-3p (MIRT664648)
- hsa-miR-1306-5p (MIRT664649)
- hsa-miR-129-5p (MIRT783495)
- hsa-miR-4444 (MIRT785885)
- hsa-miR-8055 (MIRT789676)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for GALM
- Browse OriGene Inhibitory RNA Products For GALM
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GALM
Clone Products
- Applied Biological Materials (abm): Clones for GALM - Select products 50% OFF >
- * GALM as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for GALM
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for GALM
Cell Line Products
-
Horizon Cell Lines for GALM
No data available for Human Phenotype Ontology , 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.
| Compartment | Confidence |
|---|---|
| extracellular | 4 |
| nucleus | 3 |
| cytosol | 3 |
| mitochondrion | 2 |
| plasma membrane | 1 |
| cytoskeleton | 1 |
| peroxisome | 1 |
| endoplasmic reticulum | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
- Nucleoplasm (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0070062 | extracellular exosome | HDA | 19056867 |
Pathways & Interactions for GALM Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Galactose metabolism |
Glycogen metabolism
.01
|
|
| 2 | Glucose metabolism | ||
| 3 | Metabolism | ||
| 4 | Fructose metabolism | ||
| 5 | trehalose degradation | ||
Pathways by source for GALM Gene
3 BioSystems pathways for GALM Gene
3 KEGG pathways 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.
Interacting Proteins for GALM Gene
GPS-Prot Interaction Network for GALM
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005975 | carbohydrate metabolic process | IEA,IDA | 12753898 |
| GO:0006006 | glucose metabolic process | IDA | 12753898 |
| GO:0006012 | galactose metabolic process | IDA | 12753898 |
| GO:0019318 | hexose metabolic process | IEA | -- |
| GO:0033499 | galactose catabolic process via UDP-galactose | IBA | 21873635 |
No data available for SIGNOR curated interactions for GALM Gene
Drugs & Compounds for GALM Gene
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| Alpha-D-Glucose |
|
492-62-6 |
|
Drug Products
- G Biosciences Human Aldose 1-epimerase/GALM, Liquid
Transcripts for GALM Gene
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 :
-
- ENST00000272252 2277 nts (view in UCSC)
- ENST00000410063 1023 nts (view in UCSC)
- ENST00000427858 597 nts (view in UCSC)
- ENST00000434934 724 nts (view in UCSC)
- ENST00000444351 834 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for GALM - Select products 50% OFF >
- * GALM CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for GALM
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for GALM
-
Santa Cruz Biotechnology (SCBT) CRISPR for GALM
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for GALM
- Browse OriGene Inhibitory RNA Products For GALM
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GALM
Clone Products
- Applied Biological Materials (abm): Clones for GALM - Select products 50% OFF >
- * GALM as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for GALM
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for GALM
| 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
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Neurons
- Mature Horizontal Cells Inner Nuclear Layer
- Adult Dopaminergic Neurons Substantia Nigra pars Compacta
-
Eye (Sensory Organs)
- Mature Horizontal Cells Inner Nuclear Layer
-
Brain (Nervous System)
- Adult Dopaminergic Neurons Substantia Nigra pars Compacta
-
Blood (Hematopoietic System)
- Monocytes Peripheral Blood
- Intestine (Gastrointestinal Tract)
-
Kidney (Urinary System)
-
Adrenal Gland (Endocrine System)
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
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GALM
SOURCE GeneReport for Unigene cluster for GALM Gene:
Hs.435012Evidence on tissue expression from TISSUES for GALM Gene
- Liver(4.4)
- Nervous system(4.4)
- Skin(4.4)
- Kidney(3.1)
- Intestine(2.2)
- Blood(2.1)
Primer Products
-
OriGene qPCR primer pairs for GALM
-
OriGene qPCR primer pairs and template standards for GALM
Gene Expression Assay Products
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | GALM 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | GALM 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | GALM 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Galm 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Galm 30 17 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | GALM 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | GALM 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | GALM 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | GALM 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | galm 30 |
|
||
| Str.19129 30 |
|
||||
| Zebrafish (Danio rerio) |
Actinopterygii | galm 30 31 |
|
OneToOne | |
| Dr.18948 30 |
|
||||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP004376 30 |
|
||
| Fruit Fly (Drosophila melanogaster) |
Insecta | CG10467 31 |
|
OneToMany | |
| CG32445 31 |
|
OneToMany | |||
| CG4988 31 |
|
OneToMany | |||
| CG32444 31 |
|
OneToMany | |||
| CG10996 31 |
|
OneToMany | |||
| Worm (Caenorhabditis elegans) |
Secernentea | Y19D10A.16 31 |
|
OneToMany | |
| C01B4.6 31 |
|
OneToMany | |||
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | -- 31 |
|
OneToMany | |
| -- 31 |
|
OneToMany | |||
| -- 33 |
|
|
|||
| Thale Cress (Arabidopsis thaliana) |
eudicotyledons | AT3G17940 30 |
|
||
| Rice (Oryza sativa) |
Liliopsida | Os10g0155500 30 |
|
||
| Os.20067 30 |
|
||||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
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
No data available for Paralogs for GALM Gene
Variants for GALM Gene
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 |
|---|---|---|---|---|---|
| rs6741892 | - | p.Asn190Tyr | |||
| VAR_083548 | - | p.Gly142Arg | |||
| VAR_083549 | - | p.Arg267Gly |
| 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 |
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 Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GALM Gene
Disorders for GALM Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| galactosemia iv |
|
|
| disorder of galactose metabolism |
|
|
| galactosemia i |
|
|
| partial optic atrophy |
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Search GALM in MalaCards
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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)
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No data available for Genatlas for GALM Gene
Publications for GALM Gene
- Identification and characterisation of human aldose 1-epimerase. (PMID: 12753898) Timson DJ … Reece RJ (FEBS letters 2003) 2 3 4 23
- Molecular structure of human galactose mutarotase. (PMID: 15026423) Thoden JB … Holden HM (The Journal of biological chemistry 2004) 3 4 23
- 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
- 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
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
ExternalLinks
Products for GALM Gene
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