GALE - UDP-galactose-4-epimerase Gene

Homo sapiens

Also known as SDR1E1

Gene ID: 2582 | Gene type: protein coding

About GALE

Cytogenetic location: 1p36.11 Genomic coordinates (GRCh38): 1:23,795,599-23,800,754 (from NCBI)

This gene has 16 transcripts (splice variants), 197 orthologues, 10 paralogues and is associated with 4 phenotypes. Broad expression in stomach (RPKM 46.3), duodenum (RPKM 23.9) and 19 other tissues.

Summary

This gene encodes UDP-galactose-4-epimerase which catalyzes two distinct but analogous reactions: the epimerization of UDP-glucose to UDP-galactose, and the epimerization of UDP-N-acetylglucosamine to UDP-N-acetylgalactosamine. The bifunctional nature of the Enzyme has the important metabolic consequence that mutant cells (or individuals) are dependent not only on exogenous galactose, but also on exogenous N-acetylgalactosamine as a necessary precursor for the synthesis of glycoproteins and glycolipids. Mutations in this gene result in epimerase-deficiency galactosemia, also referred to as galactosemia type 3, a disease characterized by liver damage, early-onset cataracts, deafness and cognitive disability, with symptoms ranging from mild ('peripheral' form) to severe ('generalized' form). Multiple alternatively spliced transcripts encoding the same protein have been identified. [provided by RefSeq, Jul 2008]

GALE Products(3)

mRNA	Protein	Name
NM_000403.4	NP_000394.2	UDP-glucose 4-epimerase
NM_001008216.2	NP_001008217.1	UDP-glucose 4-epimerase
NM_001127621.2	NP_001121093.1	UDP-glucose 4-epimerase

GALE Protein Structure

Epimerase

0
100
200
300
348 a.a.

Protein Preferred Names

Protein Names

UDP-glucose 4-epimerase

UDP galactose-4'-epimerase

Recombinant GALE Proteins

Cat. No.	Product Name	Accession	Purity
HY-P70418	UDP-glucose 4-epimerase/GALE Protein, Human (His)	Q14376 (M1-A348)	≥95%

Related Diseases

Diseases

Alias

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 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

Guillain-Barre Syndrome

Guillain-Barré Syndrome	Acute Inflammatory Polyneuropathy
Gbs	Acute Inflammatory Demyelinating Polyneuropathy
Acute Inflammatory Demyelinating Polyradiculoneuropathy	Acute Infective Polyneuritis
Acute Inflammatory Demyelinating Polyradiculopathy	Acute Postinfectious Polyneuropathy
Infectious Neuronitis	Post-Infectious Polyneuritis
Postinfectious Polyneuritis	Acute Autoimmune Peripheral Neuropathy
Acute Immune-Mediated Polyneuropathy	Acute Inflammatory Neuropathy
Guillain-Barré-Strohl Syndrome	Landry'S Ascending Paralysis
Landry-Guillain-Barre-Strohl Syndrome	Post-Infective Polyneuritis
Acute Infectious Polyneuritis	Fisher Syndrome
Landry-Guillain-Barre Syndrome	Guillain-Barre-Strohl Syndrome
Variant Of Guillain-Barre Syndrome	Variant Of Gbs
Aidp	Acute Idiopathic Demyelinating Polyneuropathy
Gbs, Acute Inflammatory Demyelinating Polyradiculoneuropathic Form	Guillain-Barre Syndrome, Acute Inflammatory Demyelinating Polyradiculoneuropathic Form
Miller Fisher Syndrome

Cataract

Cataracts	Cat - [Cataract]
Cataract Form	Lens Opacity
Lens Opacities

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]

Paratyphoid Fever

Paratyphoid B Fever	Paratyphoid C Fever
Paratyphoid Fever A	Paratyphoid Fever B
Paratyphoid Fever C	Paratyphoid
Paratyphoid A	Paratyphoid A Fever
Paratyphoid B	Paratyphoid C
Infection Due To Salmonella Paratyphi

Spherocytosis, Type 3

Hereditary Spherocytosis Type 3	SPH3
Hs3	Spherocytosis, Hereditary, 3
Hereditary Spherocytosis 3	Spherocytosis 3

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

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS05242	GALE Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	GALE	RGD	RGD:621493
Bos taurus	GALE	VGNC	VGNC:29218
Felis catus	GALE	VGNC	VGNC:62438
Macaca mulatta	GALE	VGNC	VGNC:72868
Mus musculus	GALE	MGD	MGI:1921496
Canis familiaris	GALE	VGNC	VGNC:41080
Macaca fascicularis	GALE	NCBI
Others	GALE	NCBI