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URL of this page: https://medlineplus.gov/genetics/gene/aldh3a2/

ALDH3A2 gene

aldehyde dehydrogenase 3 family member A2

Normal Function

The ALDH3A2 gene is a member of the aldehyde dehydrogenase (ALDH) gene family. Genes in this family provide instructions for producing enzymes that alter molecules called aldehydes. The ALDH3A2 gene provides instructions for making an enzyme that breaks down fat molecules called fatty aldehydes into fatty acids. This is part of a multistep process called fatty acid oxidation in which fats are broken down and converted into energy.

The ALDH3A2 enzyme is found in most tissues, but its activity (expression) is highest in the liver. Within cells, most of the ALDH3A2 enzyme is located in the endoplasmic reticulum, a structure that is involved in processing and transporting proteins.

Health Conditions Related to Genetic Changes

Sjögren-Larsson syndrome

Several variants (also called mutations) in the ALDH3A2 gene have been found to cause Sjögren-Larsson syndrome, which affects the skin and eyes as well as the brain and spinal cord (central nervous system). Variants in the ALDH3A2 gene can cause cells to produce a version of the ALDH3A2 enzyme that is unable to break down fatty aldehyde molecules. As a result, fat molecules build up inside cells. In the affected tissues, the accumulation of fat molecules disrupts the structure and function of protective membranes, which can damage cells and disrupt cell signaling. These abnormalities contribute to the dry, scaly skin and the neurologic problems that are seen in people with Sjögren-Larsson syndrome.

More About This Health Condition

Other Names for This Gene

  • aldehyde dehydrogenase 10
  • aldehyde dehydrogenase family 3, subfamily A, member A2
  • ALDH10
  • FALDH
  • fatty aldehyde dehydrogenase

Additional Information & Resources

Tests Listed in the Genetic Testing Registry

Scientific Articles on PubMed

Catalog of Genes and Diseases from OMIM

Gene and Variant Databases

References

  • Ashibe B, Motojima K. Fatty aldehyde dehydrogenase is up-regulated by polyunsaturated fatty acid via peroxisome proliferator-activated receptor alpha and suppresses polyunsaturated fatty acid-induced endoplasmic reticulum stress. FEBS J. 2009 Dec;276(23):6956-70. doi: 10.1111/j.1742-4658.2009.07404.x. Epub 2009 Oct 27. Citation on PubMed
  • Bindu PS. Sjogren-Larsson Syndrome: Mechanisms and Management. Appl Clin Genet. 2020 Jan 7;13:13-24. doi: 10.2147/TACG.S193969. eCollection 2020. Citation on PubMed
  • J SK, Waheed MD, Batool S, Holder SS, Rodriguez Reyes Y, Guntha M. Sjogren-Larsson Syndrome: A Rare Presentation With Developmental Delay. Cureus. 2023 Feb 18;15(2):e35159. doi: 10.7759/cureus.35159. eCollection 2023 Feb. Citation on PubMed
  • Rizzo WB, S'Aulis D, Jennings MA, Crumrine DA, Williams ML, Elias PM. Ichthyosis in Sjogren-Larsson syndrome reflects defective barrier function due to abnormal lamellar body structure and secretion. Arch Dermatol Res. 2010 Aug;302(6):443-51. doi: 10.1007/s00403-009-1022-y. Epub 2010 Jan 5. Citation on PubMed or Free article on PubMed Central
  • Rizzo WB. Sjogren-Larsson syndrome: molecular genetics and biochemical pathogenesis of fatty aldehyde dehydrogenase deficiency. Mol Genet Metab. 2007 Jan;90(1):1-9. doi: 10.1016/j.ymgme.2006.08.006. Epub 2006 Sep 22. Citation on PubMed or Free article on PubMed Central

The information on this site should not be used as a substitute for professional medical care or advice. Contact a health care provider if you have questions about your health.