ALDOB Gene: Aldolase B, Fructose-Bisphosphate
Key enzyme in fructose metabolism; mutations cause hereditary fructose intolerance
Gene Information Card
| Symbol | ALDOB |
|---|---|
| Full Name | Aldolase, Fructose-Bisphosphate B |
| Gene Type | Protein coding |
| Chromosomal Location | 9q31.1 |
| NCBI Gene ID | 229 ncbi.nlm.nih.gov/gene/229 |
| Ensembl ID | ENSG00000136872 |
| UniProt ID | P05062 |
| OMIM ID | 612724 |
| HGNC ID | 417 |
| Aliases | ALDB, aldolase B, fructose-bisphosphate aldolase B |
Description
The ALDOB gene encodes aldolase B, a liver-specific enzyme that catalyzes the cleavage of fructose-1-phosphate into dihydroxyacetone phosphate and glyceraldehyde. It is essential for fructose metabolism. Mutations in ALDOB cause hereditary fructose intolerance (HFI), an autosomal recessive disorder characterized by severe hypoglycemia, abdominal pain, and liver dysfunction after fructose ingestion.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hereditary fructose intolerance | Loss-of-function mutations in ALDOB impair fructose-1-phosphate cleavage, leading to toxic accumulation of fructose-1-phosphate in liver, kidney, and intestine, causing metabolic crisis. | ClinVar, OMIM |
| Fructose-1,6-bisphosphatase deficiency (differential) | Not directly caused by ALDOB; however, clinical overlap exists with other fructose metabolism disorders. | NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.3 | High |
| Kidney | 8.1 | Medium |
| Small intestine | 6.5 | Medium |
| Adrenal gland | 2.0 | Low |
| Spleen | 1.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 (liver cancer) | 15.2 | High expression |
| HEK293 (embryonic kidney) | 4.8 | Moderate expression |
| Caco-2 (colorectal) | 3.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.524C>A (p.Ala175Asp) | Missense | Common in European populations | Loss of enzyme activity |
| c.448G>C (p.Ala150Pro) | Missense | Found in HFI patients | Reduced catalytic efficiency |
| c.360_363del (p.Asn120Lysfs*33) | Frameshift | Rare | Complete loss of function |
Mutation functional classification
Loss of Function (LOF)
Most ALDOB mutations cause loss of enzymatic activity, leading to hereditary fructose intolerance.
Gain of Function (GOF)
No gain-of-function mutations reported for ALDOB.
Dominant Negative (DN)
No dominant-negative effects described; HFI is recessive.
View complete mutation data：
Gene Ontology (GO)
| • Fructose-bisphosphate aldolase activity (GO:0004332) | • 6-bisphosphate metabolic process (GO:0006002) |
| • Glycolytic process (GO:0006096) | • Cytoplasm (GO:0005737) |
Pathways
• Fructose and mannose metabolism (KEGG: hsa00051)
• Glycolysis / Gluconeogenesis (KEGG: hsa00010)
• Metabolic pathways (KEGG: hsa01100)
Protein Summary
Aldolase B is a homotetrameric enzyme (39 kDa per subunit) that catalyzes the reversible aldol cleavage of fructose-1-phosphate and fructose-1,6-bisphosphate. It is predominantly expressed in liver, kidney, and small intestine. The enzyme plays a critical role in dietary fructose metabolism. Deficiency due to ALDOB mutations leads to accumulation of fructose-1-phosphate, causing ATP depletion and metabolic disturbances characteristic of hereditary fructose intolerance.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ALDOB Knockout HEK293 Cell Line | EDJ-KQ1512 | Human | 229 | Details Get a Quote |
| ALDOB Knockout HeLa Cell Line | EDJ-KQ52594 | Human | 229 | Details Get a Quote |
| ALDOB Knockout A-549 Cell Line | EDJ-KQ61071 | Human | 229 | Details Get a Quote |
| ALDOB Knockout HCT 116 Cell Line | EDJ-KQ69554 | Human | 229 | Details Get a Quote |
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