ALDH5A1

ALDH5A1 belongs to the aldehyde dehydrogenase family of proteins. This gene encodes a mitochondrial NAD(+)-dependent succinic semialdehyde dehydrogenase. A deficiency of this enzyme, known as 4-hydroxybutyricaciduria, is a rare inborn error in the metabol

Full Name

Aldehyde Dehydrogenase 5 Family Member A1

Function

Catalyzes one step in the degradation of the inhibitory neurotransmitter gamma-aminobutyric acid (GABA).

Biological Process

Central nervous system development Source: UniProtKB
Gamma-aminobutyric acid catabolic process Source: UniProtKB
Glutamate metabolic process Source: UniProtKB
Neurotransmitter catabolic process Source: UniProtKB
Post-embryonic development Source: Ensembl
Succinate metabolic process Source: UniProtKB

Cellular Location

Mitochondrion

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, mental retardation, ataxia, seizures, hyperkinetic behavior, aggression, and sleep disturbances.