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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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ELOVL1
ELOVL fatty acid elongase 1
Chromosome 1 · 1p34.2
NCBI Gene: 64834Ensembl: ENSG00000066322.16HGNC: HGNC:14418UniProt: Q9BW60
54PubMed Papers
21Diseases
0Drugs
1Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingvery long-chain fatty acid biosynthetic processmembraneendoplasmic reticulumichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial featuresneurodegenerative diseaseAbnormality of the urinary systemcystic kidney disease
✦AI Summary

ELOVL1 (ELOVL fatty acid elongase 1) is an endoplasmic reticulum-bound enzyme that catalyzes the first and rate-limiting step in very long-chain fatty acid (VLCFA) biosynthesis 1. The enzyme exhibits highest activity toward C22:0 acyl-CoA substrates and participates in producing both saturated and monounsaturated VLCFAs essential for membrane lipids and sphingolipid synthesis 1. ELOVL1 functions through a four-reaction elongation cycle that adds 2 carbons per cycle to long-chain fatty acids, with particular importance for C24:0 and C24:1 sphingolipid production 1. Disease relevance is significant, as biallelic ELOVL1 variants cause a recognizable syndrome of hypomyelinating leukodystrophy, ichthyosis, progressive spasticity, and complex movement disorders including head tremor and myoclonus 2. Patients show reduced plasma VLCFA concentrations and defective VLCFA synthesis in fibroblasts 2. Clinically, ELOVL1 represents an attractive therapeutic target for X-linked adrenoleukodystrophy, with fibrate compounds like bezafibrate specifically inhibiting the enzyme 1. Additionally, ELOVL1 modulation shows promise in cancer immunotherapy, where its inhibition enhances CD8+ T cell anti-tumor responses by improving metabolic fitness 3, and in treating 1-deoxysphingolipid-associated neuropathies 4.

Sources cited
1
ELOVL1 catalyzes the rate-limiting step in VLCFA synthesis, exhibits highest activity toward C22:0 acyl-CoA, and can be inhibited by fibrates like bezafibrate
PMID: 25499606
2
Biallelic ELOVL1 variants cause hypomyelinating leukodystrophy, ichthyosis, progressive spasticity, and movement disorders; patients show reduced VLCFA levels and defective synthesis
PMID: 40590574
3
ELOVL1 inhibition enhances CD8+ T cell anti-tumor responses and metabolic fitness
PMID: 40065102
4
ELOVL1 drives formation of toxic very long-chain 1-deoxy-dihydroceramides in neuropathy models
PMID: 41298489
⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ21
ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial featuresOpen Targets
0.69Moderate
neurodegenerative diseaseOpen Targets
0.29Weak
Abnormality of the urinary systemOpen Targets
0.26Weak
cystic kidney diseaseOpen Targets
0.26Weak
optic atrophyOpen Targets
0.11Weak
hepatocellular carcinomaOpen Targets
0.09Suggestive
neoplasmOpen Targets
0.06Suggestive
hypertensionOpen Targets
0.04Suggestive
diffuse nonepidermolytic palmoplantar keratodermaOpen Targets
0.04Suggestive
ulerythema ophryogenesisOpen Targets
0.04Suggestive
liver cancerOpen Targets
0.04Suggestive
colorectal carcinomaOpen Targets
0.04Suggestive
ichthyosis, congenital, autosomal recessive 14Open Targets
0.04Suggestive
breast cancerOpen Targets
0.03Suggestive
autosomal dominant vibratory urticariaOpen Targets
0.03Suggestive
vibratory urticariaOpen Targets
0.03Suggestive
congenital lethal erythrodermaOpen Targets
0.03Suggestive
autosomal erythropoietic protoporphyriaOpen Targets
0.03Suggestive
ichthyosis with erythrokeratodermaOpen Targets
0.03Suggestive
peeling skin syndrome 6Open Targets
0.03Suggestive
Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic faciesUniProt
Pathogenic Variants1
NM_022821.4(ELOVL1):c.376-2A>GPathogenic
Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features
☆☆☆☆2022
View on ClinVar ↗
Related Genes
HSD17B12Protein interaction97%AWAT1Protein interaction86%ELOVL3Protein interaction85%ELOVL7Protein interaction85%ELOVL2Shared pathway85%CERS2Protein interaction84%
Tissue Expression6 tissues
Brain
100%
Lung
84%
Bone Marrow
83%
Liver
48%
Heart
43%
Ovary
35%
Gene Interaction Network
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ELOVL1HSD17B12AWAT1ELOVL3ELOVL7ELOVL2CERS2
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q9BW60
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.43Moderately Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.25 [0.15–0.43]
RankingsWhere ELOVL1 stands among ~20K protein-coding genes
  • #8,309of 20,598
    Most Researched54
  • #5,076of 5,498
    Most Pathogenic Variants1
  • #2,285of 17,882
    Most Constrained (LOEUF)0.43 · top quartile
Genes detectedELOVL1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
A functional single-cell metabolic survey identifies Elovl1 as a target to enhance CD8
PMID: 40065102
Nat Metab · 2025
1.00
2
Computational insight into structural basis of human ELOVL1 inhibition.
PMID: 36924735
Comput Biol Med · 2023
0.90
3
Very long-chain fatty acids drive 1-deoxySphingolipid toxicity.
PMID: 41298489
Nat Commun · 2025
0.80
4
ELOVL1 is upregulated and promotes tumor growth in hepatocellular carcinoma through regulating PI3K-AKT-mTOR signaling.
PMID: 39144963
Heliyon · 2024
0.70
5
Whole-genome sequencing analysis reveals new susceptibility loci and structural variants associated with progressive supranuclear palsy.
PMID: 39152475
Mol Neurodegener · 2024
0.60