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. Within the retina, the ELOVL4 protein is produced in specialized light receptor 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 photoreceptor cells, 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
At least three mutations in the ELOVL4 gene have been found to cause Stargardt macular degeneration. These mutations create a premature stop signal in the instructions used to make the ELOVL4 protein. As a result, the protein cannot be retained in the endoplasmic reticulum of photoreceptor cells. Instead, the ELOVL4 protein forms clumps (aggregates). These aggregates cannot make very long-chain fatty acids and may interfere with cell functions, ultimately leading to cell death. The loss of photoreceptor cells causes progressive vision loss in people with Stargardt macular degeneration. Mutations in the ELOVL4 gene are a rare cause of this condition.More About This Health Condition
Age-related macular degeneration
MedlinePlus Genetics provides information about Age-related macular degenerationMore 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
- 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
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