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ELOVL4 gene

ELOVL fatty acid elongase 4

Normal Function

The ELOVL4 gene provides instructions for making a protein that is found primarily in the retina, the specialized light-sensitive tissue that lines the back of the eye. Specifically, the ELOVL4 protein is produced in the retina's light-sensing cells (photoreceptors). The ELOVL4 protein is also found in the brain and skin, but less is known about its activity (expression) in these structures.

Inside photoreceptors, this protein is located in a cell structure called the endoplasmic reticulum that is involved in protein production, processing, and transport. The ELOVL4 protein plays a role in making a group of fats called very long-chain fatty acids. The protein helps add carbon molecules to long-chain fatty acids, making them very long-chain fatty acids. The function of the very long-chain fatty acids produced by the ELOVL4 protein is unknown.

Health Conditions Related to Genetic Changes

Stargardt macular degeneration

A few variants (also called mutations) in the ELOVL4 gene have been found to cause Stargardt macular degeneration. These variants create a premature stop signal in the instructions used to make the ELOVL4 protein. This causes the protein to form clumps (aggregates) in the endoplasmic reticulum of photoreceptors. These aggregates cannot make very long-chain fatty acids and may interfere with cell functions, ultimately leading to cell death. The loss of photoreceptors causes progressive vision loss in people with Stargardt macular degeneration.

More About This Health Condition

Age-related macular degeneration

MedlinePlus Genetics provides information about Age-related macular degeneration

More About This Health Condition

Other Names for This Gene

  • elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 4
  • elongation of very long chain fatty acids protein 4

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


  • Agbaga MP, Brush RS, Mandal MN, Henry K, Elliott MH, Anderson RE. Role of Stargardt-3 macular dystrophy protein (ELOVL4) in the biosynthesis of very long chain fatty acids. Proc Natl Acad Sci U S A. 2008 Sep 2;105(35):12843-8. doi: 10.1073/pnas.0802607105. Epub 2008 Aug 26. Citation on PubMed or Free article on PubMed Central
  • Molday RS, Zhang K. Defective lipid transport and biosynthesis in recessive and dominant Stargardt macular degeneration. Prog Lipid Res. 2010 Oct;49(4):476-92. doi: 10.1016/j.plipres.2010.07.002. Epub 2010 Jul 13. Citation on PubMed or Free article on PubMed Central
  • Walia S, Fishman GA. Natural history of phenotypic changes in Stargardt macular dystrophy. Ophthalmic Genet. 2009 Jun;30(2):63-8. doi: 10.1080/13816810802695550. Citation on PubMed

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.