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GENATLAS PHENOTYPE |
last update : 5/02/2008 |
Symbol | SSADH |
Location | 6p22.2 |
Name | 4-hydroxybutyric aciduria |
Corresponding gene | ALDH5A1 |
Other symbol(s) | ALDH5A1, 4-HBA, 4HBA |
Main clinical features |
|
Genetic determination | autosomal recessive |
Function/system disorder | metabolism/organic acid |
Type | disease |
Gene product |
Name | succinic semialdehyde dehydrogenase (SSADH) |
Mechanism(s) |
Gene mutation | Chromosome rearrangement | Effect | Comments |
| deletion
|  
| truncated protein
|  
| |
Remark(s) |