HomeGeneticsGeneELOVL4 gene
Back to Gene
ELOVL4 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

ELOVL4 gene

The ELOVL4 gene provides instructions for creating a protein essential for the function of light-sensing cells in the retina, and variants in this gene are linked to macular degeneration.

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.

Age-related macular degeneration

MedlinePlus Genetics provides information about Age-related macular degeneration.

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
  • ELOV4_HUMAN

Genomic Location

The ELOVL4 gene is found on chromosome 6.

Frequently Asked Questions

Watch for subtle changes such as difficulty reading fine print, increased glare, or a gradual loss of central vision, especially in low light. Early retinal imaging (optical coherence tomography) can detect photoreceptor loss before symptoms become severe, allowing earlier intervention or enrollment in research studies.
While no specific diet reverses the genetic defect, maintaining a healthy retina is advisable: eat a diet rich in leafy greens, omega‑3 fatty acids, and antioxidants; protect eyes from excessive UV light with sunglasses; and avoid smoking, which accelerates macular damage. Regular follow‑up with a retinal specialist is essential.
If a close relative (parent, sibling, or child) has been diagnosed with Stargardt macular degeneration, a clinical genetic test can determine whether a pathogenic ELOVL4 variant is present. Testing is usually ordered by an ophthalmologist or medical geneticist, and results can inform surveillance, family planning, and eligibility for clinical trials.
t present, there are no approved therapies that correct the underlying gene defect. Management focuses on low‑vision rehabilitation, use of visual aids, and monitoring for complications. Ongoing clinical trials are exploring gene‑replacement and neuroprotective approaches, so discuss trial eligibility with your specialist.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

kontakt@hittavard.se

Ⓒ 2024. Alla rättigheter förbehålls av juxt ab

Sök
Om ossVillkor och policyVanliga frågorKontakta oss