Health Topics
Official websites use .gov
A
.gov website belongs to an official government
organization in the United States.
Secure .gov websites use HTTPS
A
lock (
) or https:// means you’ve safely connected to
the .gov website. Share sensitive information only on official,
secure websites.
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 ConditionAge-related macular degeneration
MedlinePlus Genetics provides information about Age-related macular degeneration
More About This Health ConditionOther 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
- ELOV4_HUMAN
Additional Information & Resources
Tests Listed in the Genetic Testing Registry
Scientific Articles on PubMed
Catalog of Genes and Diseases from OMIM
References
- 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.