ALDOA
Summary: This gene encodes a member of the class I fructose-bisphosphate aldolase protein family. The encoded protein is a glycolytic enzyme that catalyzes the reversible conversion of fructose-1,6-bisphosphate to glyceraldehyde 3-phosphate and dihydroxyacetone phosphate. Three aldolase isozymes (A, B, and C), encoded by three different genes, are differentially expressed during development. Mutations in this gene have been associated with Glycogen Storage Disease XII, an autosomal recessive disorder associated with hemolytic anemia. Disruption of this gene also plays a role in the progression of multiple types of cancers. Related pseudogenes have been identified on chromosomes 3 and 10. [provided by RefSeq, Sep 2017].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:103850 Ensembl IDEnsembl:ENSG00000285043 HGNC IDHGNC:HGNC:414 PHARMGKB IDPA24707 Map Location16p11.2 | |||||
Gene Categories:
DRUGGABLE GENOMEGO terms in ALDOA
Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | HDA | GO:0003723 | RNA binding |
| MF | TAS | GO:0003779 | actin binding |
| MF | EXP | GO:0004332 | fructose-bisphosphate aldolase activity |
| MF | IDA | GO:0004332 | fructose-bisphosphate aldolase activity |
| MF | IPI | GO:0005515 | protein binding |
| MF | IDA | GO:0008092 | cytoskeletal protein binding |
Gene expression in normal tissue: ALDOA
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in ALDOA
Database | Pathway ID | Pathway Des. |
|---|---|---|
| smpdb | SMP00031 | Pentose Phosphate Pathway |
| smpdb | SMP00040 | Glycolysis |
| smpdb | SMP00064 | Fructose and Mannose Degradation |
| smpdb | SMP00128 | Gluconeogenesis |
| smpdb | SMP00374 | Glycogen Storage Disease Type 1A (GSD1A) or Von Gierke Disease |
| smpdb | SMP00518 | Glucose-6-phosphate dehydrogenase deficiency |
Gene-Drug: Aster Plot
Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD353 | PD0325901 | 1 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in ALDOA
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
Copyright © 2018 Modellab | All Rights Reserved
Disclaimer: iGMDR is intended for research purposes only. Its information cannot be used for emergencies or medical or professional advice.