ALDH7A1 aldehyde dehydrogenase 7 family, member A1 [Homo sapiens (human)]
| Gene Symbol | ALDH7A1 |
| Entrez Gene ID | 501 |
| Full Name | aldehyde dehydrogenase 7 family, member A1 |
| Synonyms | ATQ1, EPD, FLJ11738, FLJ92814, PDE |
| Gene Type | protein-coding |
| Organism | Homo sapiens (human) |
| Genome |
5 5q31 |
| 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]. |
| Disorder | MIM: 107323 Epilepsy, pyridoxine-dependent, 266100 (3) |
| mRNA | NM_001202404, 320202963 |
| Protein | NP_001189333, 320202964 |
| Product | alpha-aminoadipic semialdehyde dehydrogenase isoform 3 |
| RefSeq Status | REVIEWED |
| mRNA | NM_001182, 319655559 |
| Protein | NP_001173, 188035924 |
| Product | alpha-aminoadipic semialdehyde dehydrogenase isoform 1 precursor |
| RefSeq Status | REVIEWED |
| mRNA | NM_001201377, 319655560 |
| Protein | NP_001188306, 319655561 |
| Product | alpha-aminoadipic semialdehyde dehydrogenase isoform 2 |
| RefSeq Status | REVIEWED |
| hsa00640 | Propanoate metabolism |
| hsa00260 | Glycine, serine and threonine metabolism |
| hsa00340 | Histidine metabolism |
| hsa01100 | Metabolic pathways |
| hsa00561 | Glycerolipid metabolism |
| hsa00310 | Lysine degradation |
| hsa00380 | Tryptophan metabolism |
| hsa00330 | Arginine and proline metabolism |
| hsa00300 | Lysine biosynthesis |
| hsa00410 | beta-Alanine metabolism |
| hsa00053 | Ascorbate and aldarate metabolism |
| hsa00620 | Pyruvate metabolism |
| hsa00010 | Glycolysis / Gluconeogenesis |
| hsa00071 | Fatty acid metabolism |
| hsa00280 | Valine, leucine and isoleucine degradation |
Reactome
| REACT_1298 | Lysine catabolism |
| REACT_13 | Metabolism of amino acids and derivatives |
| Homo sapiens (human) | ALDH7A1 | NP_001173.2 |
| Pan troglodytes (chimpanzee) | ALDH7A1 | XP_517904.2 |
| Canis lupus familiaris (dog) | ALDH7A1 | XP_538607.2 |
| Bos taurus (cattle) | ALDH7A1 | NP_001039434.1 |
| Mus musculus (house mouse) | Aldh7a1 | NP_613066.1 |
| Rattus norvegicus (Norway rat) | Aldh7a1 | XP_214535.3 |
| Gallus gallus (chicken) | ALDH7A1 | XP_424422.2 |
| Danio rerio (zebrafish) | aldh7a1 | NP_997889.1 |
| Drosophila melanogaster (fruit fly) | CG9629 | NP_649099.1 |
| Caenorhabditis elegans | alh-9 | NP_498263.2 |
| Arabidopsis thaliana (thale cress) | ALDH7B4 | NP_849807.1 |
| ID | Name | Evidence |
| GO:0006081 | cellular aldehyde metabolic process | ISS |
| GO:0006554 | lysine catabolic process | TAS |
| GO:0007605 | sensory perception of sound | TAS |
| GO:0034641 | cellular nitrogen compound metabolic process | TAS |
Component
| ID | Name | Evidence |
| GO:0005575 | cellular_component | ND |
| GO:0005634 | nucleus | IEA |
| GO:0005737 | cytoplasm | IEA |
| GO:0005739 | mitochondrion | IEA |
| GO:0005759 | mitochondrial matrix | TAS |
| GO:0005829 | cytosol | IEA |
Function
| ID | Name | Evidence |
| GO:0004029 | aldehyde dehydrogenase (NAD) activity | ISS |
| GO:0004043 | L-aminoadipate-semialdehyde dehydrogenase activity | TAS |
| GO:0008802 | betaine-aldehyde dehydrogenase activity | IEA |
| GO:0016491 | oxidoreductase activity | IEA |
Our customer service representatives are available 24 hours a day, Monday through Friday; please contact us anytime for assistance.
 |
Secured Online Quotation |
 |
Email: gene@genscript.com |
 |
Phone: 1-877-436-7274 (Toll-Free) 1-732-885-9188 |
 |
Fax: 1-732-210-0262 1-732-885-5878 |