ALDOC: Aldolase, Fructose-Bisphosphate C
A key glycolytic enzyme with roles in metabolism, cancer, and neurological disorders
Gene Information Card
| Symbol | ALDOC |
|---|---|
| Full Name | Aldolase, Fructose-Bisphosphate C |
| Gene Type | Protein coding |
| Chromosomal Location | 17q11.2 |
| NCBI Gene ID | 230 ncbi.nlm.nih.gov/gene/230 |
| Ensembl ID | ENSG00000109107 |
| UniProt ID | P09972 |
| OMIM ID | 103870 |
| HGNC ID | 418 |
| Aliases | ALDC, ALDOC1, Aldolase C, brain-type aldolase |
Description
ALDOC encodes aldolase C, a member of the class I fructose-bisphosphate aldolase family. This enzyme catalyzes the reversible conversion of fructose-1,6-bisphosphate to glyceraldehyde-3-phosphate and dihydroxyacetone phosphate in glycolysis. Aldolase C is predominantly expressed in the brain and nervous tissue, but also in other tissues. It plays roles in energy metabolism, cell growth, and is implicated in certain cancers and neurological conditions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hereditary fructose intolerance (mild variant) | Reduced aldolase activity leads to accumulation of fructose-1-phosphate and metabolic disturbance | OMIM #229600; ClinVar |
| Glioblastoma | Overexpression of ALDOC supports glycolytic metabolism (Warburg effect) in glioma cells | COSMIC; PubMed studies |
| Alzheimer's disease | Altered ALDOC expression linked to synaptic dysfunction and metabolic stress in neurons | NCBI Gene; literature review |
| Epilepsy | ALDOC deficiency in animal models associated with seizure susceptibility | OMIM; research articles |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 32.5 | High |
| Cerebellum | 45.2 | Very high |
| Cerebral cortex | 28.1 | High |
| Heart | 6.3 | Medium |
| Skeletal muscle | 4.1 | Low |
| Liver | 1.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 38.7 | High expression |
| U-87 MG (glioblastoma) | 42.1 | Very high expression |
| HEK293 (embryonic kidney) | 12.4 | Moderate expression |
| HepG2 (hepatocellular carcinoma) | 3.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.802G>A (p.Gly268Arg) | Missense | <0.01% | Reduced enzyme activity; associated with mild metabolic symptoms |
| c.103C>T (p.Arg35Cys) | Missense | <0.01% | Decreased stability; reported in neurological phenotypes |
| c.448+1G>A | Splice donor | <0.01% | Loss of function; predicted null allele |
Mutation functional classification
Loss of Function (LOF)
Missense and splice-site mutations that reduce or abolish aldolase activity, leading to metabolic disturbances.
Gain of Function (GOF)
Not reported in ALDOC.
Dominant Negative (DN)
Not reported in ALDOC.
View complete mutation data：
Gene Ontology (GO)
| • GO:0004332 – fructose-bisphosphate aldolase activity | • GO:0006096 – glycolytic process |
| • GO:0005829 – cytosol | • GO:0005737 – cytoplasm |
| • GO:0016829 – lyase activity | • GO:0005515 – protein binding |
Pathways
• Glycolysis / Gluconeogenesis (KEGG: hsa00010)
• Fructose and mannose metabolism (KEGG: hsa00051)
• Carbon metabolism (KEGG: hsa01200)
• HIF-1 signaling pathway (KEGG: hsa04066)
Protein Summary
Aldolase C is a 364-amino-acid protein (39.5 kDa) that forms a homotetramer. It catalyzes the fourth step of glycolysis. The protein is highly expressed in brain, where it regulates energy metabolism and synaptic function. It also interacts with cytoskeletal proteins and may influence cell motility. Post-translational modifications include acetylation and phosphorylation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ALDOC Knockout HEK293 Cell Line | EDJ-KQ1511 | Human | 230 | Details Get a Quote |
| ALDOC Knockout A-549 Cell Line | EDJ-KQ21141 | Human | 230 | Details Get a Quote |
| ALDOC Knockout HCT 116 Cell Line | EDJ-KQ21142 | Human | 230 | Details Get a Quote |
| ALDOC Knockout HeLa Cell Line | EDJ-KQ21143 | Human | 230 | Details Get a Quote |
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