ELOVL4
ELOVL Fatty Acid Elongase 4
Gene Information Card
| Symbol | ELOVL4 |
|---|---|
| Full Name | ELOVL Fatty Acid Elongase 4 |
| Gene Type | Protein coding |
| Chromosomal Location | 6q14.1 |
| NCBI Gene ID | 6785 ncbi.nlm.nih.gov/gene/6785 |
| Ensembl ID | ENSG00000118402 |
| UniProt ID | Q9GZR5 |
| OMIM ID | 605512 |
| HGNC ID | 14415 |
| Aliases | Ssc2, FLJ25084, MGC125294, MGC125295 |
Description
ELOVL4 encodes a member of the elongation of very long chain fatty acids (ELOVL) protein family. This enzyme is involved in the biosynthesis of very long-chain fatty acids (VLCFAs) with chain lengths of 26 or more carbons, which are critical for the structure and function of the retina, brain, skin, and other tissues. Mutations in ELOVL4 are associated with autosomal dominant Stargardt disease (STGD3) and spinocerebellar ataxia type 34 (SCA34).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Stargardt disease 3 (STGD3) | Dominant-negative or haploinsufficiency leading to reduced VLCFA synthesis in photoreceptor cells, causing retinal degeneration. | ClinVar, OMIM |
| Spinocerebellar ataxia 34 (SCA34) | Missense mutations (e.g., p.Arg246Cys) impair enzyme activity, leading to Purkinje cell degeneration and ataxia. | ClinVar, OMIM |
| Erythrokeratodermia variabilis et progressiva (EKVP) | Mutations in ELOVL4 disrupt skin barrier function due to abnormal VLCFA composition. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 7.2 | Medium |
| Retina | 12.5 | High |
| Skin | 5.8 | Medium |
| Testis | 4.1 | Low |
| Adipose tissue | 2.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| ARPE-19 (retinal pigment epithelium) | 15.3 | High expression |
| SH-SY5Y (neuroblastoma) | 8.7 | Medium expression |
| HaCaT (keratinocyte) | 6.4 | Medium expression |
| HepG2 (hepatocellular carcinoma) | 1.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.810C>G (p.Tyr270*) | Nonsense | Rare | Truncated protein; loss of function associated with STGD3 |
| c.736C>T (p.Arg246Cys) | Missense | Rare | Impaired enzyme activity; associated with SCA34 |
| c.788A>G (p.Asn263Ser) | Missense | Rare | Reduced VLCFA elongation; linked to EKVP |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Tyr270*) lead to truncated, non-functional protein, causing haploinsufficiency in Stargardt disease.
Gain of Function (GOF)
No gain-of-function mutations reported for ELOVL4.
Dominant Negative (DN)
Missense mutations (e.g., p.Arg246Cys) may exert dominant-negative effects by interfering with wild-type enzyme complex formation, as seen in SCA34.
View complete mutation data：
Gene Ontology (GO)
| • fatty acid elongase activity (GO:0009922) | • fatty acid biosynthetic process (GO:0006633) |
| • integral component of membrane (GO:0016021) | • endoplasmic reticulum (GO:0005783) |
Pathways
• Very long-chain fatty acid biosynthesis (Reactome: R-HSA-2046106)
• Sphingolipid metabolism (KEGG: hsa00600)
Protein Summary
ELOVL4 is a 314-amino acid transmembrane protein localized to the endoplasmic reticulum. It catalyzes the condensation of malonyl-CoA with long-chain acyl-CoA substrates to extend fatty acids beyond C26. The protein contains a conserved histidine-rich motif essential for enzymatic activity. Mutations affecting the C-terminal region disrupt protein stability and localization, leading to disease.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ELOVL4 Knockout HEK293 Cell Line | EDJ-KQ3151 | Human | 6785 | Details Get a Quote |
| ELOVL4 Knockout HeLa Cell Line | EDJ-KQ23165 | Human | 6785 | Details Get a Quote |
| ELOVL4 Knockout A-549 Cell Line | EDJ-KQ24550 | Human | 6785 | Details Get a Quote |
| ELOVL4 Knockout HCT 116 Cell Line | EDJ-KQ71544 | Human | 6785 | Details Get a Quote |
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