ELOVL6
ELOVL Fatty Acid Elongase 6
Gene Information Card
| Symbol | ELOVL6 |
|---|---|
| Full Name | ELOVL Fatty Acid Elongase 6 |
| Gene Type | protein-coding |
| Chromosomal Location | 4q25 |
| NCBI Gene ID | 79071 ncbi.nlm.nih.gov/gene/79071 |
| Ensembl ID | ENSG00000170522 |
| UniProt ID | Q9H5J4 |
| OMIM ID | 611546 |
| HGNC ID | 16299 |
| Aliases | FAE, LCE, FACE, FLJ23311, MGC4617 |
Description
ELOVL6 (ELOVL Fatty Acid Elongase 6) encodes a member of the elongation of very long chain fatty acids (ELOVL) protein family. This enzyme catalyzes the elongation of long-chain fatty acids, specifically converting palmitate (C16:0) to stearate (C18:0) and other monounsaturated variants. It plays a key role in de novo lipogenesis and is implicated in metabolic disorders such as insulin resistance, non-alcoholic fatty liver disease (NAFLD), and obesity.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Non-alcoholic fatty liver disease (NAFLD) | Increased ELOVL6 expression promotes hepatic steatosis by enhancing fatty acid elongation. | ClinVar, NCBI |
| Type 2 diabetes | Altered ELOVL6 activity contributes to insulin resistance via changes in membrane lipid composition. | OMIM, NCBI |
| Obesity | Upregulation in adipose tissue correlates with lipid accumulation and metabolic dysfunction. | NCBI, COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Adipose tissue | 8.3 | Medium |
| Brain | 4.1 | Low |
| Kidney | 3.2 | Low |
| Heart | 2.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.0 | Hepatocellular carcinoma cell line |
| 3T3-L1 | 10.2 | Adipocyte precursor cells |
| HeLa | 5.5 | Cervical cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.394C>T (p.Arg132Trp) | Missense | 0.01% | Reduced elongase activity |
| c.518G>A (p.Arg173His) | Missense | 0.005% | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
Missense variants such as p.Arg132Trp reduce enzymatic activity, impairing fatty acid elongation.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in ELOVL6.
Dominant Negative (DN)
No evidence of dominant-negative effects for ELOVL6 mutations.
View complete mutation data：
Gene Ontology (GO)
| • fatty acid elongase activity | • very long-chain fatty acid biosynthetic process |
| • endoplasmic reticulum membrane | • lipid metabolic process |
Pathways
• Fatty acid elongation (KEGG: hsa00062)
• De novo lipogenesis (Reactome: R-HSA-8978868)
Protein Summary
ELOVL6 is a 267-amino acid transmembrane protein localized to the endoplasmic reticulum. It catalyzes the condensation reaction in the elongation cycle of long-chain fatty acids, using malonyl-CoA as a two-carbon donor. The protein is highly expressed in lipogenic tissues such as liver and adipose, and its dysregulation is linked to metabolic diseases.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ELOVL6 Knockout HEK293 Cell Line | EDJ-KQ13278 | Human | 79071 | Details Get a Quote |
| ELOVL6 Knockout A-549 Cell Line | EDJ-KQ42699 | Human | 79071 | Details Get a Quote |
| ELOVL6 Knockout HCT 116 Cell Line | EDJ-KQ42700 | Human | 79071 | Details Get a Quote |
| ELOVL6 Knockout HeLa Cell Line | EDJ-KQ42701 | Human | 79071 | Details Get a Quote |
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