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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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SLC27A3
solute carrier family 27 member 3
Chromosome 1 · 1q21.3
NCBI Gene: 11000Ensembl: ENSG00000143554.14HGNC: HGNC:10997UniProt: Q5K4L6
45PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
long-chain fatty acid-CoA ligase activityvery long-chain fatty acid-CoA ligase activitylong-chain fatty acid metabolic processfatty acid transportasthmaallergic asthmaneoplasmglioblastoma multiforme
✦AI Summary

SLC27A3 encodes very long-chain acyl-CoA synthetase 3, a fatty acid transporter that functions as an acyl-CoA ligase catalyzing ATP-dependent activation of long-chain and very-long-chain fatty acids 1. The protein mediates cellular fatty acid levels by facilitating their transport across membranes and is expressed in neural stem cells during central nervous system development 2. Disruption of SLC27A3 function has broad clinical implications. Biallelic nonsense variants cause neurodegeneration with brain iron accumulation (NBIA), featuring progressive ataxia, neuropathy, optic atrophy, cognitive decline, and impaired mitochondrial respiration 3. At the population level, SLC27A3 loss-of-function variants associate with reduced asthma risk 4, while aberrant DNA methylation at SLC27A3 contributes to diabetic kidney disease progression 5. SLC27A3 upregulation correlates with chr1 obstructive pulmonary disease (COPD) severity, promoting Th17/Treg imbalance and lung inflammation via JAK2/STAT3 pathway activation 6. Additionally, SLC27A3 appears as a diagnostic biomarker in COPD with associations to immune cell infiltration 7, and rare height-associated variants in this gene show different selective pressures between populations 8. Depression susceptibility may involve SLC27A3 through methylation and expression changes 9. These findings position SLC27A3 as a critical regulator of lipid metabolism with implications for neurological, metabolic, respiratory, and immunological diseases.

Sources cited
1
SLC27A3 functions as an acyl-CoA ligase catalyzing ATP-dependent formation of fatty acyl-CoA from LCFA and VLCFA
PMID: 23936004
2
SLC27A3 is expressed in human neural stem cells and highly polymorphic with multiple rare variants; involvement in early CNS development
PMID: 26548558
3
Biallelic SLC27A3 nonsense variants cause NBIA with ataxia, neuropathy, optic atrophy, cognitive decline, and impaired mitochondrial respiration
PMID: 41054338
4
SLC27A3 loss-of-function variants associated with reduced asthma risk in 454,787 UK Biobank participants
PMID: 34662886
5
Aberrant DNA methylation at SLC27A3 associated with diabetic kidney disease progression
PMID: 37949210
6
SLC27A3 upregulation in COPD promotes Th17/Treg imbalance and lung inflammation via JAK2/STAT3 pathway; knockdown alleviates COPD
PMID: 39786880
7
SLC27A3 identified as diagnostic biomarker for COPD with associations to immune cell infiltration patterns
PMID: 35350787
8
SLC27A3 rare and low-frequency variants associated with height in Japanese population under different selection pressure than Europeans
PMID: 31562340
9
SLC27A3 identified as influencing depression risk through methylation and expression changes in oxidative stress-related pathway
PMID: 40544884
Disease Associationsⓘ20
asthmaOpen Targets
0.19Weak
allergic asthmaOpen Targets
0.18Weak
neoplasmOpen Targets
0.09Suggestive
glioblastoma multiformeOpen Targets
0.08Suggestive
idiopathic pulmonary fibrosisOpen Targets
0.08Suggestive
nonpapillary renal cell carcinomaOpen Targets
0.07Suggestive
Chronic Obstructive AsthmaOpen Targets
0.06Suggestive
lower respiratory tract diseaseOpen Targets
0.04Suggestive
glioblastomaOpen Targets
0.04Suggestive
chronic obstructive pulmonary diseaseOpen Targets
0.03Suggestive
exudative vitreoretinopathy 2, X-linkedOpen Targets
0.03Suggestive
Familial exudative vitreoretinopathyOpen Targets
0.03Suggestive
lung cancerOpen Targets
0.03Suggestive
cancerOpen Targets
0.03Suggestive
gliomaOpen Targets
0.03Suggestive
Neoplasm of the lungOpen Targets
0.02Suggestive
poliomyelitisOpen Targets
0.01Suggestive
diabetic nephropathyOpen Targets
0.01Suggestive
clear cell renal carcinomaOpen Targets
0.01Suggestive
tuberculosisOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ACSL1Protein interaction74%AASDHProtein interaction74%RBP7Shared pathway50%RBP5Shared pathway50%CRABP1Shared pathway50%FABP12Shared pathway33%
Tissue Expression6 tissues
Lung
100%
Liver
89%
Ovary
68%
Bone Marrow
54%
Heart
30%
Brain
18%
Gene Interaction Network
Click a node to explore
SLC27A3ACSL1AASDHRBP7RBP5CRABP1FABP12
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q5K4L6
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.36LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.10 [0.90–1.36]
RankingsWhere SLC27A3 stands among ~20K protein-coding genes
  • #9,520of 20,598
    Most Researched45
  • #14,250of 17,882
    Most Constrained (LOEUF)1.36
Genes detectedSLC27A3
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Exome sequencing and analysis of 454,787 UK Biobank participants.
PMID: 34662886
Nature · 2021
1.00
2
Identifying potential pathogenic oxidative stress-related genes in depression through multi-omics summary-data-based Mendelian randomization analysis.
PMID: 40544884
J Affect Disord · 2025
0.90
3
Biallelic Variants in SLC27A3 Cause a Complex Form of Neurodegeneration with Brain Iron Accumulation.
PMID: 41054338
Mov Disord · 2025
0.80
4
Investigation of the fatty acid transporter-encoding genes SLC27A3 and SLC27A4 in autism.
PMID: 26548558
Sci Rep · 2015
0.70
5
Targeting DNA methylation in diabetic kidney disease: A new perspective.
PMID: 37949210
Life Sci · 2023
0.60