ALDH5A1


Also found in: Acronyms.

ALDH5A1

A gene on chromosome 6p22 that encodes mitochondrial matrix NAD-dependent succinic semialdehyde dehydrogenase, of the aldehyde dehydrogenase family of proteins.

Molecular pathology
ALDH5A1 mutation causes 4-hydroxybutyricaciduria, which, due to an inability to metabolise GABA, results in accumulation of GHB, a neuromodulator.