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Metazoan complexes |
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Details of ALDH7A1 gene in Homo sapiens
IDs | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
|
| ALDH7A1 | ATQ1 | P49419 | AL7A1_HUMAN | 501 | ENSG00000164904 | Alpha-aminoadipic semialdehyde dehydrogenase | SPROT | |
Disease | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Disease | OMIM id | ||||||||
| Pyridoxine-dependent epilepsy (PDE) [MIM:266100]: Characterized by a combination of various seizure types. It usually occurs in the first hours of life and is unresponsive to standard anticonvulsants, responding only to immediate administration of pyridoxine hydrochloride. Note=The disease is caused by mutations affecting the gene represented in this entry. | 266100 | ||||||||
Phenotypes
Abnormality of metabolism/homeostasis, Abnormality of muscle physiology, Abnormality of prenatal development or birth, Abnormality of the central nervous system, Abnormality of the lung, Abnormality of the musculature, Abnormality of the nervous system, Abnormality of the respiratory system, Abnormal muscle tone, All, Autosomal recessive inheritance, Dyspnea, Functional respiratory abnormality, Generalized myoclonic seizures, Generalized seizures, Generalized tonic-clonic seizures, Mode of inheritance, Muscular hypotonia, Neonatal respiratory distress, Phenotypic abnormality, Prenatal movement abnormality, Respiratory distress, Respiratory insufficiency, Seizures, Status epilepticus.
Orthologs in other species | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||
| Aldh7a1 | CG9629 | alh-9 | --- | ||||||
| Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
Complex ID | Corum | BioGrid | IRefWeb | Novelty |
|---|---|---|---|---|---|---|---|---|---|
| ALDH7A1 | CAT | 0.157886666 | ALDH7A1 | CAT | cpx217 | no | no | no | Novel |
| ALDH7A1 | FAHD2A | 0.286341772 | ALDH7A1 | FAHD2A | cpx217 | no | no | no | Novel |