Skip Navigation
Genetics Home Reference: your guide to understanding genetic conditions
http://ghr.nlm.nih.gov/     A service of the U.S. National Library of Medicine®

ELOVL4

Reviewed November 2010

What is the official name of the ELOVL4 gene?

The official name of this gene is “ELOVL fatty acid elongase 4.”

ELOVL4 is the gene's official symbol. The ELOVL4 gene is also known by other names, listed below.

What is the normal function of the ELOVL4 gene?

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.

How are changes in the ELOVL4 gene related to health conditions?

Stargardt macular degeneration - caused by mutations in the ELOVL4 gene

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.

Where is the ELOVL4 gene located?

Cytogenetic Location: 6q14

Molecular Location on chromosome 6: base pairs 79,914,811 to 79,947,597

The ELOVL4 gene is located on the long (q) arm of chromosome 6 at position 14.

The ELOVL4 gene is located on the long (q) arm of chromosome 6 at position 14.

More precisely, the ELOVL4 gene is located from base pair 79,914,811 to base pair 79,947,597 on chromosome 6.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about ELOVL4?

You and your healthcare professional may find the following resources about ELOVL4 helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the ELOVL4 gene or gene products?

  • 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

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding ELOVL4?

acids ; cell ; endoplasmic reticulum ; fatty acids ; gene ; photoreceptor ; protein ; receptor ; retina ; tissue

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

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. (http://www.ncbi.nlm.nih.gov/pubmed/18728184?dopt=Abstract)
  • 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. Review. (http://www.ncbi.nlm.nih.gov/pubmed/20633576?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/6785)
  • OMIM: ELONGATION OF VERY LONG CHAIN FATTY ACIDS-LIKE 4 (http://omim.org/entry/605512)
  • 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. Review. (http://www.ncbi.nlm.nih.gov/pubmed/19373676?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: November 2010
Published: July 21, 2014