GALE Gene (UDP-Galactose-4-Epimerase)
Genetic, Functional, and Clinical Insights into GALE-Related Disorders
Gene Information Card
| Symbol | GALE |
|---|---|
| Full Name | UDP-galactose-4-epimerase |
| Gene Type | Protein coding |
| Chromosomal Location | 1p36.11 |
| NCBI Gene ID | 2582 ncbi.nlm.nih.gov/gene/2582 |
| Ensembl ID | ENSG00000117308 |
| UniProt ID | Q14376 |
| OMIM ID | 606953 |
| HGNC ID | 4116 |
| Aliases | SDR1E1, galactose epimerase |
Description
The GALE gene encodes UDP-galactose-4-epimerase, an enzyme essential for galactose metabolism. It catalyzes the reversible conversion of UDP-galactose to UDP-glucose, a critical step in the Leloir pathway. Deficiencies in GALE lead to galactosemia type III, characterized by elevated galactose and galactitol levels, with clinical manifestations ranging from benign to severe, including cataracts, liver dysfunction, and developmental delay.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Galactosemia type III | Loss-of-function mutations in GALE reduce enzyme activity, impairing UDP-galactose conversion and causing accumulation of galactose-1-phosphate and galactitol. | ClinVar, OMIM |
| Epimerase deficiency galactosemia | Mutations lead to varying degrees of enzyme deficiency, with generalized form affecting multiple tissues and peripheral form limited to red blood cells. | OMIM, PubMed |
| Galactosemia | GALE mutations are a rare cause of galactosemia, distinct from GALT and GALK deficiencies. | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.4 | Medium |
| Kidney | 8.2 | Low |
| Small intestine | 7.5 | Low |
| Spleen | 5.1 | Low |
| Brain | 4.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.2 | Liver cancer cell line, high expression |
| A549 | 8.7 | Lung carcinoma, moderate |
| MCF7 | 6.3 | Breast cancer, low |
| K562 | 4.1 | Leukemia, low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.940G>A (p.Asp314Asn) | Missense | Rare | Reduced enzyme activity, associated with galactosemia type III |
| c.487C>T (p.Arg163Trp) | Missense | Rare | Impaired enzyme function, clinical phenotype |
| c.653T>C (p.Leu218Pro) | Missense | Rare | Severe deficiency, generalized form |
| c.1A>G (p.Met1Val) | Start codon loss | Very rare | Loss of protein expression, severe phenotype |
Mutation functional classification
Loss of Function (LOF)
Most GALE mutations are loss-of-function, reducing or abolishing enzyme activity, leading to metabolic block.
Gain of Function (GOF)
No gain-of-function mutations reported; enzyme activity is typically reduced.
Dominant Negative (DN)
Some missense mutations may exert dominant-negative effects by forming inactive dimers, but evidence is limited.
View complete mutation data：
Gene Ontology (GO)
| • UDP-galactose 4-epimerase activity | • Carbohydrate metabolic process |
| • Galactose metabolic process | • NAD binding |
| • Cytoplasm |
Pathways
• Galactose metabolism (Leloir pathway)
• Amino sugar and nucleotide sugar metabolism
Protein Summary
UDP-galactose-4-epimerase is a homodimeric enzyme that interconverts UDP-galactose and UDP-glucose. It requires NAD+ as a cofactor. The protein is primarily cytosolic and expressed in various tissues, with highest levels in liver. Defects in this enzyme disrupt galactose utilization, leading to metabolic disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GALE Knockout HEK293 Cell Line | EDJ-KQ4670 | Human | 2582 | Details Get a Quote |
| GALE Knockout A-549 Cell Line | EDJ-KQ27353 | Human | 2582 | Details Get a Quote |
| GALE Knockout HCT 116 Cell Line | EDJ-KQ27354 | Human | 2582 | Details Get a Quote |
| GALE Knockout HeLa Cell Line | EDJ-KQ27355 | Human | 2582 | Details Get a Quote |
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