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GALM - galactose mutarotase Gene

Also Known as GLAT; IBD1; GALAC4; BLOCK25; HEL-S-63p

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 130589

About GALM

Cytogenetic location: 2p22.1 Genomic coordinates (GRCh38): 2:38,666,114-38,734,765 (from NCBI)

This gene has 5 transcripts (splice variants), 208 orthologues and is associated with 2 phenotypes. Broad expression in kidney (RPKM 43.9), duodenum (RPKM 30.0) and 20 other tissues.

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 metabolism by maintaining the equilibrium of alpha and beta anomers of galactose.[provided by RefSeq, Mar 2009]

GALM Products (1)

mRNA	Protein	Name
NM_138801.3	NP_620156.1	galactose mutarotase

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables aldose 1-epimerase activity	IDA IDA: Inferred from direct assay	12753898	GOA
NOT enables protein homodimerization activity	IDA IDA: Inferred from direct assay	12753898	GOA

Biological Process GO Annotation	Evidence	References	Source
acts upstream of or within carbohydrate metabolic process	IDA IDA: Inferred from direct assay	12753898	GOA
involved in galactose catabolic process via UDP-galactose	IDA IDA: Inferred from direct assay	30451973	GOA
involved in galactose metabolic process	IDA IDA: Inferred from direct assay	12753898	GOA
involved in glucose metabolic process	IDA IDA: Inferred from direct assay	12753898	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

GALM Protein Structure

Aldose_epim

0
100
200
300
342 a.a.

Protein Preferred Names	Protein Names
galactose mutarotase	aldose 1-epimerase

Recombinant GALM Proteins

Cat. No.	Product Name	Accession	Purity
HY-P7479	Aldose 1-epimerase/GALM Protein, Human (His)	Q96C23 (A2-A342)	≥ 95%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases	Alias
Galactosemia Iv	Galactose Mutarotase Deficiency Galactosemia 4 GALAC4 Galm Deficiency Galactosemia Type 4
Galactosemia I	Galactosemia Galt Deficiency Classic Galactosemia Galactose-1-Phosphate Uridylyltransferase Deficiency Galactose-1-Phosphate Uridyltransferase Deficiency GALAC1 Galactosemia, Classic Galactosemia Type 1 Galactosemias Classical Galactosemia Galactosaemia Galactose Intolerance Epimerase Deficiency Galactosemia Galactokinase Deficiency Disease Galactose Epimerase Deficiency Galactose-1-Phosphate Uridyl-Transferase Deficiency Disease Gale Deficiency Galk Deficiency Udp-Galactose-4-Epimerase Deficiency Disease Utp Hexose-1-Phosphate Uridylyltransferase Deficiency Galactosemia 1 Galactosemia, Duarte Variant Deficiency Of Galactokinase Udpglucose 4-Epimerase Deficiency Disease Classical Galactosaemia Galput Deficiency - [Galactose-4-Phosphate Uridyltransferase] Deficiency Classic Galactosaemia Deficiency Of Hexose-1-Phosphate Uridylyltransferase Deficiency Of Udpglucose-Hexose-1-Phosphate Uridylyltransferase Deficiency Of Galactose-1-Phosphate Uridylyltransferase Galactose-1-Phosphate Uridyl Transferase Deficiency Transferase Deficiency Galactosemia Deficiency Of Uridyl Transferase Deficiency Of Utp-Hexose-1-Phosphate Uridylyltransferase Utp-Hexose-1-Phosphate Uridyltransferase Deficiency
Galactosemia Iii	Galactose Epimerase Deficiency Gale Deficiency Udp-Galactose-4-Epimerase Deficiency Epimerase Deficiency Galactosemia Galactosemia Type 3 Gale-D Uridine Diphosphate Galactose-4-Epimerase Deficiency GALAC3 Galactosemia 3 Generalized Uridine Diphosphate Galactose-4-Epimerase Deficiency Erythrocyte Uridine Diphosphate Galactose-4-Epimerase Deficiency Galactosemia Type Iii Udp-Galactose-4'-Epimerase Deficiency Generalized Galactose Epimerase Deficiency Generalized Gale Deficiency Generalized Gale-D Generalized Udp-Galactose-4-Epimerase Deficiency Generalized Epimerase Deficiency Galactosemia Erythrocyte Galactose Epimerase Deficiency Erythrocyte Gale Deficiency Erythrocyte Gale-D Erythrocyte Udp-Galactose-4-Epimerase Deficiency Erythrocyte Epimerase Deficiency Galactosemia Galactosemias Classical Galactosemia Udpglucose 4-Epimerase Deficiency Disease
Galactosemia Ii	Galactokinase Deficiency Galk Deficiency Galactokinase Deficiency With Cataracts Deficiency Of Galactokinase GALAC2 Galk-D Galactokinase Deficiency Galactosemia Galactosemia 2 Galactosemia Type 2 Hereditary Galactokinase Deficiency Galactokinase Deficiency, Cataract Galactosemias Galk - [Galactokinase Deficiency]
Internuclear Ophthalmoplegia	Ophthalmoplegia Internuclearis Bielschowsky-Lutz-Cogan Syndrome Ino - [Internuclear Ophthalmoplegia] Lhermitte Syndrome Mlf - [Medial Longitudinal Fasciculus] Syndrome Internuclear Paralysis
Powassan Encephalitis	Powassan Encephalitis Virus Infection

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (5)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-W415856	β-D-galactose		/	Unkown
HY-177945	MS99-β-Gal	Degrader	/	Unkown
HY-RS05245	GALM Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS18132	Galm Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24607	Galm Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	GALM	RGD	RGD:1359459
Mus musculus	GALM	MGD	MGI:2442420
Macaca mulatta	GALM	VGNC	VGNC:97772
Bos taurus	GALM	VGNC	VGNC:29221
Felis catus	GALM	VGNC	VGNC:62441
Canis familiaris	GALM	VGNC	VGNC:41083
Others	GALM	NCBI