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Genetics Home Reference: your guide to understanding genetic conditions
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ALDH7A1

Reviewed June 2008

What is the official name of the ALDH7A1 gene?

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.

What is the normal function of the ALDH7A1 gene?

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.

Does the ALDH7A1 gene share characteristics with other genes?

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.

How are changes in the ALDH7A1 gene related to health conditions?

pyridoxine-dependent epilepsy - caused by mutations in the ALDH7A1 gene

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.

Where is the ALDH7A1 gene located?

Cytogenetic Location: 5q31

Molecular Location on chromosome 5: base pairs 125,877,532 to 125,931,081

The ALDH7A1 gene is located on the long (q) arm of chromosome 5 at position 31.

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 125,877,532 to base pair 125,931,081 on chromosome 5.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about ALDH7A1?

You and your healthcare professional may find the following resources about ALDH7A1 helpful.

  • Gene Reviews - Clinical summary (http://www.ncbi.nlm.nih.gov/books/NBK1486/)

  • Genetic Testing Registry - Repository of genetic test information

    • GTR: Genetic tests for ALDH7A1 (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=501%5Bgeneid%5D)

You may also be interested in these resources, which are designed for genetics professionals and researchers.

  • PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=((ALDH7A1%5BTIAB%5D)%20OR%20(antiquitin%5BTIAB%5D))%20AND%20((Genes%5BMH%5D)%20OR%20(Genetic%20Phenomena%5BMH%5D))%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%20720%20days%22%5Bdp%5D)
  • OMIM - Genetic disorder catalog (http://omim.org/entry/107323)

  • Research Resources - Tools for researchers

    • Atlas of Genetics and Cytogenetics in Oncology and Haematology (http://atlasgeneticsoncology.org/Genes/GC_ALDH7A1.html)
    • Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/501)
    • GeneCards (http://www.genecards.org/cgi-bin/carddisp.pl?id_type=entrezgene&id=501)
    • HUGO Gene Nomenclature Committee (http://www.genenames.org/data/hgnc_data.php?hgnc_id=877)

What other names do people use for the ALDH7A1 gene or gene products?

  • AL7A1_HUMAN
  • aldehyde dehydrogenase 7A1
  • antiquitin
  • antiquitin 1
  • ATQ1
  • EPD
  • PDE

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding ALDH7A1?

acids ; amino acid ; cell ; cytosol ; deficiency ; dehydrogenase ; enzyme ; gene ; glycine ; 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).

References

  • Bok LA, Struys E, Willemsen MA, Been JV, Jakobs C. Pyridoxine-dependent seizures in Dutch patients: diagnosis by elevated urinary alpha-aminoadipic semialdehyde levels. Arch Dis Child. 2007 Aug;92(8):687-9. Epub 2006 Nov 6. (http://www.ncbi.nlm.nih.gov/pubmed/17088338?dopt=Abstract)
  • Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/501)
  • Fong WP, Cheng CH, Tang WK. Antiquitin, a relatively unexplored member in the superfamily of aldehyde dehydrogenases with diversified physiological functions. Cell Mol Life Sci. 2006 Dec;63(24):2881-5. Review. (http://www.ncbi.nlm.nih.gov/pubmed/17131062?dopt=Abstract)
  • Kanno J, Kure S, Narisawa A, Kamada F, Takayanagi M, Yamamoto K, Hoshino H, Goto T, Takahashi T, Haginoya K, Tsuchiya S, Baumeister FA, Hasegawa Y, Aoki Y, Yamaguchi S, Matsubara Y. Allelic and non-allelic heterogeneities in pyridoxine dependent seizures revealed by ALDH7A1 mutational analysis. Mol Genet Metab. 2007 Aug;91(4):384-9. Epub 2007 Apr 11. (http://www.ncbi.nlm.nih.gov/pubmed/17433748?dopt=Abstract)
  • Mills PB, Struys E, Jakobs C, Plecko B, Baxter P, Baumgartner M, Willemsen MA, Omran H, Tacke U, Uhlenberg B, Weschke B, Clayton PT. Mutations in antiquitin in individuals with pyridoxine-dependent seizures. Nat Med. 2006 Mar;12(3):307-9. Epub 2006 Feb 19. (http://www.ncbi.nlm.nih.gov/pubmed/16491085?dopt=Abstract)
  • OMIM: ALDEHYDE DEHYDROGENASE 7 FAMILY, MEMBER A1 (http://omim.org/entry/107323)
  • Pearl PL, Taylor JL, Trzcinski S, Sokohl A. The pediatric neurotransmitter disorders. J Child Neurol. 2007 May;22(5):606-16. Review. (http://www.ncbi.nlm.nih.gov/pubmed/17690069?dopt=Abstract)
  • Plecko B, Paul K, Paschke E, Stoeckler-Ipsiroglu S, Struys E, Jakobs C, Hartmann H, Luecke T, di Capua M, Korenke C, Hikel C, Reutershahn E, Freilinger M, Baumeister F, Bosch F, Erwa W. Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene. Hum Mutat. 2007 Jan;28(1):19-26. (http://www.ncbi.nlm.nih.gov/pubmed/17068770?dopt=Abstract)

 

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.

 
Reviewed: June 2008
Published: May 20, 2013