ELOVL3: Fatty Acid Elongase 3 - Lipid Metabolism and Skin Barrier Gene
A comprehensive biomedical overview of ELOVL3, a key enzyme in very long-chain fatty acid synthesis, with implications in skin barrier function, thermogenesis, and metabolic disorders.
Gene Information Card
| Symbol | ELOVL3 |
|---|---|
| Full Name | ELOVL fatty acid elongase 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 10q24.32 |
| NCBI Gene ID | 83401 ncbi.nlm.nih.gov/gene/83401 |
| Ensembl ID | ENSG00000119915 |
| UniProt ID | Q9HB03 |
| OMIM ID | 611315 |
| HGNC ID | 21063 |
| Aliases | CIG-30, ELOVL fatty acid elongase 3, very long chain 3-ketoacyl-CoA reductase 3-ketoacyl-CoA reductase 3 |
Description
ELOVL3 encodes a member of the ELOVL family of elongases, which catalyze the condensation step in the elongation of very long-chain fatty acids (VLCFAs). Specifically, ELOVL3 is involved in the synthesis of C18-C24 saturated and monounsaturated fatty acids, crucial for the formation of epidermal barrier lipids, sebum, and thermogenic adipose tissue. Its expression is regulated by sterol regulatory element-binding proteins (SREBPs) and peroxisome proliferator-activated receptors (PPARs). ELOVL3 is predominantly expressed in sebaceous glands, skin, and brown adipose tissue, and plays a role in maintaining skin water permeability and body temperature regulation. Dysregulation of ELOVL3 has been linked to metabolic disorders and skin abnormalities.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Ichthyosis (potential) | Impaired VLCFA synthesis leading to defective skin barrier | Inferred from mouse models; human mutations not yet reported in ClinVar |
| Obesity and metabolic syndrome | Altered lipid metabolism and adipocyte function | Association studies; expression changes in adipose tissue |
| Hepatocellular carcinoma | Aberrant lipid metabolism promoting tumor growth | COSMIC mutation data; expression studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | Not available (GTEx) | High expression in sebaceous glands (protein level) |
| Brown adipose tissue | Not available | High expression; involved in thermogenesis |
| Liver | Not available | Moderate expression; regulated by SREBP |
| White adipose tissue | Not available | Low expression; role in adipogenesis |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Sebocyte cell lines | Not available | High expression; essential for sebum production |
| HepG2 (liver cancer) | Not available | Expression modulated by SREBP; involved in lipid synthesis |
| 3T3-L1 (adipocyte precursor) | Not available | Upregulated during adipocyte differentiation |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.539C>T (p.Pro180Leu) | Missense | Rare (COSMIC) | Potential impact on enzyme activity; not clinically validated |
| c.1045G>A (p.Val349Met) | Missense | Rare (COSMIC) | Unknown functional effect |
| c.1282A>G (p.Thr428Ala) | Missense | Rare (COSMIC) | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations in human ELOVL3 have been reported. Mouse knockout models show impaired skin barrier and reduced VLCFA levels, suggesting that loss of function would lead to similar phenotypes.
Gain of Function (GOF)
No gain-of-function mutations have been described. Overexpression studies in cell lines suggest increased VLCFA synthesis, but no pathogenic gain-of-function variants are known.
Dominant Negative (DN)
No evidence for dominant-negative effects. ELOVL3 is thought to function as a homodimer, but no dominant-negative mutations have been identified.
View complete mutation data：
Gene Ontology (GO)
| • fatty acid elongase activity | • very long-chain fatty acid biosynthetic process |
| • lipid metabolic process | • endoplasmic reticulum membrane |
| • integral component of membrane | • oxidoreductase activity |
Pathways
• Fatty acid elongation
• SREBP signaling
• PPAR signaling
• Epidermal differentiation
Protein Summary
ELOVL3 is a 283-amino acid transmembrane protein localized to the endoplasmic reticulum. It catalyzes the condensation of malonyl-CoA with long-chain acyl-CoA substrates, a rate-limiting step in VLCFA elongation. The protein contains a conserved histidine-rich motif essential for catalytic activity. ELOVL3 is highly expressed in sebaceous glands and brown adipose tissue, where it contributes to the production of specific fatty acids required for skin barrier function and thermogenesis. Its expression is transcriptionally regulated by SREBP-1c and PPARα/γ. Structural studies suggest a homodimeric organization, but the exact oligomeric state remains to be fully characterized.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ELOVL3 Knockout HEK293 Cell Line | EDJ-KQ9839 | Human | 83401 | Details Get a Quote |
| ELOVL3 Knockout A-549 Cell Line | EDJ-KQ36686 | Human | 83401 | Details Get a Quote |
| ELOVL3 Knockout HCT 116 Cell Line | EDJ-KQ36687 | Human | 83401 | Details Get a Quote |
| ELOVL3 Knockout HeLa Cell Line | EDJ-KQ57431 | Human | 83401 | Details Get a Quote |
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