Reviewed June 2008
What is the official name of the ALDH5A1 gene?
The official name of this gene is “aldehyde dehydrogenase 5 family, member A1 (succinate-semialdehyde dehydrogenase).”
ALDH5A1 is the gene's official symbol. The ALDH5A1 gene is also known by other names, listed below.
What is the normal function of the ALDH5A1 gene?
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.
Does the ALDH5A1 gene share characteristics with other genes?
The ALDH5A1 gene belongs to a family of genes called ALDH (aldehyde dehydrogenases).
A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? in the Handbook.
How are changes in the ALDH5A1 gene related to health conditions?
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succinic semialdehyde dehydrogenase deficiency - caused by mutations in the ALDH5A1 gene
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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.
Where is the ALDH5A1 gene located?
Cytogenetic Location: 6p22.2-p22.3
Molecular Location on chromosome 6: base pairs 24,603,175 to 24,645,413
The ALDH5A1 gene is located on the short (p) arm of chromosome 6 between positions 22.3 and 22.2.
More precisely, the ALDH5A1 gene is located from base pair 24,603,175 to base pair 24,645,413 on chromosome 6.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about ALDH5A1?
You and your healthcare professional may find the following resources about ALDH5A1 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
- PubMed
- Recent literature
- OMIM - Genetic disorder catalog
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What other names do people use for the ALDH5A1 gene or gene products?
- aldehyde dehydrogenase 5A1
- aldehyde dehydrogenase 5 family, member A1
- mitochondrial succinate semialdehyde dehydrogenase
- NAD(+)-dependent succinic semialdehyde dehydrogenase
- SSADH
- SSDH
- SSDH_HUMAN
Where can I find general information about genes?
The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding ALDH5A1?
The resources on this site should not be used as a substitute for
professional medical care or advice. Users seeking information about
a personal genetic disease, syndrome, or condition should consult with a qualified
healthcare professional.
See How can I find a genetics professional in my area? in the Handbook.
