ALDH7A1
Summary: The protein encoded by this gene is a member of subfamily 7 in the aldehyde dehydrogenase gene family. These enzymes are thought to play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. This particular member has homology to a previously described protein from the green garden pea, the 26g pea turgor protein. It is also involved in lysine catabolism that is known to occur in the mitochondrial matrix. Recent reports show that this protein is found both in the cytosol and the mitochondria, and the two forms likely arise from the use of alternative translation initiation sites. An additional variant encoding a different isoform has also been found for this gene. Mutations in this gene are associated with pyridoxine-dependent epilepsy. Several related pseudogenes have also been identified. [provided by RefSeq, Jan 2011].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:107323 Ensembl IDEnsembl:ENSG00000164904 HGNC IDHGNC:HGNC:877 PHARMGKB IDPA24704 Map Location5q23.2 | |||||
Gene Categories:
DRUGGABLE GENOMEGO terms in ALDH7A1
Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| BP | ISS | GO:0006081 | cellular aldehyde metabolic process |
| BP | TAS | GO:0006554 | lysine catabolic process |
| BP | TAS | GO:0007605 | sensory perception of sound |
| BP | IEA | GO:0019285 | glycine betaine biosynthetic process from choline |
| BP | TAS | GO:0042426 | choline catabolic process |
| BP | IEA | GO:0055114 | oxidation-reduction process |
Gene expression in normal tissue: ALDH7A1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in ALDH7A1
Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-1430728 | Metabolism |
| reactome | R-HSA-6788656 | Histidine, lysine, phenylalanine, tyrosine, proline and tryptophan catabolism |
| reactome | R-HSA-6798163 | Choline catabolism |
| reactome | R-HSA-71064 | Lysine catabolism |
| reactome | R-HSA-71291 | Metabolism of amino acids and derivatives |
| kegg | hsa00010 | Glycolysis / Gluconeogenesis - Homo sapiens (human) |
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in ALDH7A1
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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