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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
| B4DMA0
| E7EPT3 | 2J6L
2J6L |
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 |
107323 |
Phenotypes
Abnormal muscle tone, 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, 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 |
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