ELOVL4 Gene

ELOVL4 — ELOVL Fatty Acid Elongase 4

Introduction

Elovl4 Gene is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.

<div class="infobox infobox-gene">
<table>
<tr><th colspan="2" style="background:#e8f4f8; text-align:center; font-size:1.1em;">ELOVL4</th></tr>
<tr><td><strong>Gene Symbol</strong></td><td>ELOVL4</td></tr>
<tr><td><strong>Full Name</strong></td><td>ELOVL Fatty Acid Elongase 4</td></tr>
<tr><td><strong>Chromosome</strong></td><td>6q14.1</td></tr>
<tr><td><strong>NCBI Gene ID</strong></td><td>[6785](https://www.ncbi.nlm.nih.gov/gene/6785)</td></tr>
<tr><td><strong>OMIM</strong></td><td>614512</td></tr>
<tr><td><strong>Ensembl ID</strong></td><td>ENSG00000153902</td></tr>
<tr><td><strong>UniProt ID</strong></td><td>[Q9GZR7](https://www.uniprot.org/uniprot/Q9GZR7)</td></tr>
<tr><td><strong>Associated Diseases</strong></td><td>Alzheimer's Disease, Macular Degeneration, Spinocerebellar Ataxia</td></tr>
</table>
</div>

Overview

ELOVL4 (ELOVL Fatty Acid Elongase 4) is a gene encoding a critical enzyme involved in the synthesis of very long chain fatty acids (VLCFAs) with chain lengths of 24-34 carbons. Located on chromosome 6q14.1, this gene is essential for neuronal health and has been implicated in several neurodegenerative and retinal diseases[@ref][@refa].

ELOVL4 — ELOVL Fatty Acid Elongase 4

Introduction

Elovl4 Gene is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.

<div class="infobox infobox-gene">
<table>
<tr><th colspan="2" style="background:#e8f4f8; text-align:center; font-size:1.1em;">ELOVL4</th></tr>
<tr><td><strong>Gene Symbol</strong></td><td>ELOVL4</td></tr>
<tr><td><strong>Full Name</strong></td><td>ELOVL Fatty Acid Elongase 4</td></tr>
<tr><td><strong>Chromosome</strong></td><td>6q14.1</td></tr>
<tr><td><strong>NCBI Gene ID</strong></td><td>[6785](https://www.ncbi.nlm.nih.gov/gene/6785)</td></tr>
<tr><td><strong>OMIM</strong></td><td>614512</td></tr>
<tr><td><strong>Ensembl ID</strong></td><td>ENSG00000153902</td></tr>
<tr><td><strong>UniProt ID</strong></td><td>[Q9GZR7](https://www.uniprot.org/uniprot/Q9GZR7)</td></tr>
<tr><td><strong>Associated Diseases</strong></td><td>Alzheimer's Disease, Macular Degeneration, Spinocerebellar Ataxia</td></tr>
</table>
</div>

Overview

ELOVL4 (ELOVL Fatty Acid Elongase 4) is a gene encoding a critical enzyme involved in the synthesis of very long chain fatty acids (VLCFAs) with chain lengths of 24-34 carbons. Located on chromosome 6q14.1, this gene is essential for neuronal health and has been implicated in several neurodegenerative and retinal diseases[@ref][@refa].

The protein belongs to the ELOVL family of elongation enzymes, which catalyze the first and rate-limiting step of very long chain fatty acid elongation. In the brain, ELOVL4 is particularly important for producing the omega-3 and omega-6 fatty acids that compose neuronal membranes, support synaptic transmission, and maintain myelin integrity. Dysfunction of ELOVL4 leads to accumulation of very long chain fatty acids and deficiency of VLC-PUFAs, disrupting cellular membranes and contributing to neurodegeneration[@refb].

[@ref]: https://pubmed.ncbi.nlm.nih.gov/15870276/
[@refa]: https://pubmed.ncbi.nlm.nih.gov/23431055/
[@refb]: https://pubmed.ncbi.nlm.nih.gov/25632052/

Function

ELOVL4 encodes a member of the ELOVL (elongation of very long chain fatty acids) family of proteins, which catalyze the initial condensation step of fatty acid elongation. This enzyme is specifically involved in the synthesis of very long chain saturated and polyunsaturated fatty acids (VLC-PUFAs) with chain lengths of 24-34 carbons. In the brain, ELOVL4 is essential for the production of very long chain omega-3 and omega-6 fatty acids that are critical for neuronal membrane composition, synaptic function, and myelin integrity.

Expression

High expression in retina, brain (especially [hippocampus](/brain-regions/hippocampus) and cerebral cortex), and skin. Expressed in [neurons](/entities/neurons), photoreceptors, and oligodendrocytes.

Disease Associations

| Disease | Variants | Inheritance | Mechanism |
|---------|----------|-------------|-----------|
| Alzheimer's Disease | Y299H, T483Kfs*9 | Autosomal dominant | Impaired VLC-PUFA synthesis, synaptic dysfunction |
| Macular Degeneration | 5-bp deletion (框) | Autosomal dominant | Photoreceptor degeneration |
| Spinocerebellar Ataxia | 271T>A | Autosomal dominant | Impaired fatty acid metabolism in Purkinje cells |

Therapeutic Implications

• Fatty acid supplementation: Providing VLC-PUFAs bypasses the biosynthetic block
• Gene therapy: AAV-mediated ELOVL4 delivery to retina and brain
• Small molecule activators: Enhancing residual ELOVL4 activity

Key Publications

See Also

• [Alzheimer's Disease](/diseases/alzheimers-disease)
• [Fatty Acid Metabolism](/mechanisms/fatty-acid-metabolism)
• [Spinocerebellar Ataxia](/diseases/spinocerebellar-ataxia)
• [Macular Degeneration](/diseases/age-related-macular-degeneration)

See Also

• [Genes Index](/genes)
• [Proteins Index](/proteins)
• [Neurodegenerative Diseases](/diseases)
• [Mechanisms Index](/mechanisms)

External Links

• [NCBI Gene](https://www.ncbi.nlm.nih.gov/gene/)
• [UniProt](https://www.uniprot.org/)
• [PubMed](https://pubmed.ncbi.nlm.nih.gov/)

Background

The study of Elovl4 Gene has evolved significantly over the past decades. Research in this area has revealed important insights into the underlying mechanisms of neurodegeneration and continues to drive therapeutic development.

Historical context and key discoveries in this field have shaped our current understanding and will continue to guide future research directions.

References