ALDH5A1
Function
Catalyzes one step in the degradation of the inhibitory neurotransmitter gamma-aminobutyric acid (GABA).
Involvement in disease
Succinic semialdehyde dehydrogenase deficiency
SSADHD
A rare inborn error of 4-aminobutyric acid (GABA) metabolism, which leads to accumulation of 4-hydroxybutyric acid in physiologic fluids of patients. The disease is clinically characterized by developmental delay, hypotonia, intellectual disability, ataxia, seizures, hyperkinetic behavior, aggression, and sleep disturbances.
None
The disease is caused by variants affecting the gene represented in this entry.
Pathway
Amino-acid degradation; 4-aminobutanoate degradation.
Sequence Similarities
Belongs to the aldehyde dehydrogenase family.
Tissue Specificity
Brain, pancreas, heart, liver, skeletal muscle and kidney. Lower in placenta.
Cellular localization
- Mitochondrion
Alternative names
SSADH, ALDH5A1, Aldehyde dehydrogenase family 5 member A1, NAD(+)-dependent succinic semialdehyde dehydrogenase