|http://ghr.nlm.nih.gov/ A service of the U.S. National Library of Medicine®|
The official name of this gene is “aldehyde dehydrogenase 7 family, member A1.”
ALDH7A1 is the gene's official symbol. The ALDH7A1 gene is also known by other names, listed below.
The ALDH7A1 gene is a member of the aldehyde dehydrogenase (ALDH) gene family. These genes provide instructions for producing enzymes that alter molecules called aldehydes. The ALDH7A1 gene provides instructions for making an enzyme called α-aminoadipic semialdehyde (α-AASA) dehydrogenase, also known as antiquitin. Within the cell, antiquitin is found in the internal fluid of the cell (cytosol) and in the nucleus. This enzyme is involved in the breakdown of the protein building block (amino acid) lysine in the brain. In one step in the breakdown of lysine to other molecules, antiquitin facilitates the conversion of α-aminoadipic semialdehyde to α-aminoadipate. The breakdown of lysine in the brain is necessary for energy production and to produce other needed molecules.
The ALDH7A1 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? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) in the Handbook.
A variety of mutations in the ALDH7A1 gene have been found to cause pyridoxine-dependent epilepsy. Most of these mutations are specific to single families. One mutation occurs in multiple people with this condition; it replaces the amino acid glutamine with the amino acid glycine at position 399 in the antiquitin protein (written as Glu399Gln or E399Q). All mutations that cause pyridoxine-dependent epilepsy produce a nonfunctional antiquitin protein. A shortage (deficiency) of antiquitin leads to the buildup of α-aminoadipic semialdehyde, resulting in a disruption in the activity of pyridoxine, a form of vitamin B6 derived from food. Pyridoxine plays a role many processes in the body, such as the breakdown of amino acids and chemicals in the brain called neurotransmitters. It is unclear how a lack of pyridoxine causes the seizures characteristic of this condition.
Cytogenetic Location: 5q31
Molecular Location on chromosome 5: base pairs 126,541,840 to 126,595,389
The ALDH7A1 gene is located on the long (q) arm of chromosome 5 at position 31.
More precisely, the ALDH7A1 gene is located from base pair 126,541,840 to base pair 126,595,389 on chromosome 5.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
You and your healthcare professional may find the following resources about ALDH7A1 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
acids ; aldehyde ; aldehydes ; amino acid ; breakdown ; cell ; cytosol ; deficiency ; dehydrogenase ; enzyme ; epilepsy ; gene ; glutamine ; glycine ; lysine ; mutation ; neurotransmitters ; nucleus ; protein
You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).
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? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.