ALDH5A1

aldehyde dehydrogenase 5 family member A1

The ALDH5A1 gene provides instructions for producing the succinic semialdehyde dehydrogenase enzyme. This enzyme is found in the energy-producing centers of cells (mitochondria). Succinic semialdehyde dehydrogenase is involved in the breakdown of a chemical that transmits signals in the brain (neurotransmitter) called gamma-amino butyric acid (GABA). The primary role of GABA is to prevent the brain from being overloaded with too many signals. Once GABA molecules have been released from nerve cells, they are broken down by succinic semialdehyde dehydrogenase and other enzymes.

At least 35 mutations in the ALDH5A1 gene have been found to cause succinic semialdehyde dehydrogenase deficiency. Most of these mutations change one protein building block (amino acid) in the succinic semialdehyde dehydrogenase enzyme. Mutations in the ALDH5A1 gene lead to the production of an enzyme with little or no activity. A lack of functional succinic semialdehyde dehydrogenase disrupts the conversion of succinic semialdehyde to succinic acid. Instead, succinic semialdehyde is converted back into GABA or to a related molecule, gamma-hydroxybutyrate (GHB). It is unclear how increases in GHB and GABA cause developmental delay, seizures, and other features of succinic semialdehyde dehydrogenase deficiency.

Cytogenetic Location: 6p22, which is the short (p) arm of chromosome 6 at position 22

Molecular Location: base pairs 24,494,969 to 24,537,207 on chromosome 6 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 6p22, which is the short (p) arm of chromosome 6 at position 22
  • aldehyde dehydrogenase 5 family, member A1
  • aldehyde dehydrogenase 5 family, member A1 (succinate-semialdehyde dehydrogenase)
  • aldehyde dehydrogenase 5A1
  • mitochondrial succinate semialdehyde dehydrogenase
  • NAD(+)-dependent succinic semialdehyde dehydrogenase
  • SSADH
  • SSDH
  • SSDH_HUMAN