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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
SLC27A4
solute carrier family 27 member 4
Chromosome 9 Β· 9q34.11
NCBI Gene: 10999Ensembl: ENSG00000167114.14HGNC: HGNC:10998UniProt: Q6P1M0
125PubMed Papers
21Diseases
0Drugs
50Pathogenic Variants
FUNCTIONAL ROLE
Transporter
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
fatty acid metabolic processlong-chain fatty acid-CoA ligase activitylong-chain fatty acid transmembrane transporter activityoleoyl-CoA ligase activityichthyosis prematurity syndromeneurodegenerative diseasegenetic disorderlamellar ichthyosis
✦AI Summary

SLC27A4 (FATP4) is a dual-function long-chain fatty acid transporter and acyl-CoA synthetase that regulates cellular lipid metabolism. As a membrane transporter, SLC27A4 mediates long-chain and very-long-chain fatty acid uptake across cell membranes, functioning as the principal fatty acid transporter in small intestinal enterocytes 1. Its enzymatic activity catalyzes ATP-dependent formation of fatty acyl-CoA, preventing fatty acid efflux and promoting continued uptake 2. SLC27A4 localizes to multiple cellular compartments including the endoplasmic reticulum, mitochondria, and peroxisomes, where it participates in lipid droplet-to-mitochondria fatty acid trafficking during fasting 3. Beyond lipid transport, SLC27A4 regulates autophagy by stabilizing ATG4B protein and influences hepatocellular carcinoma progression by promoting selective mono-unsaturated fatty acid uptake, conferring ferroptosis resistance 4. Mutations in SLC27A4 are associated with ichthyosis-prematurity syndrome and neurological disorders 5. Clinical relevance emerges in nonalcoholic fatty liver disease (NAFLD), where hepatic SLC27A4 overexpression promotes steatosis and inflammation via PXR pathway activation 6, and in hepatocellular carcinoma, where SLC27A4 overexpression correlates with poor prognosis and therapeutic resistance 47.

Sources cited
1
SLC27A4 is principal fatty acid transporter in small intestinal enterocytes and mediates long-chain fatty acid transport across cell membranes
PMID: 20448275
2
SLC27A4 functions as acyl-CoA ligase catalyzing ATP-dependent formation of fatty acyl-CoA
PMID: 22022213
3
FATP4/SLC27A4 interacts with PLIN5 at lipid droplet-mitochondria contact sites to promote fatty acid trafficking and oxidation
PMID: 37290445
4
SLC27A4 overexpression in HCC promotes mono-unsaturated fatty acid uptake, ferroptosis resistance, and poor patient survival
PMID: 36924851
5
SLC27A4 mutations are associated with pediatric neurological disorders
PMID: 34797406
6
Hepatic SLC27A4 overexpression promotes NAFLD/NASH development via PXR-phosphatidylcholine signaling
PMID: 39489412
7
SLC27A4 mediates glycolysis and HCC progression in response to extracellular vesicle-derived NAMPT
PMID: 40237223
8
SLC27A4 stabilizes ATG4B protein and regulates chemotherapy-induced autophagy in lung cancer cells
PMID: 26662804
9
SLC27A4 expression is elevated in gastric intestinal metaplasia and contributes to lipid accumulation
PMID: 41239006
10
SLC27A4 functions as a peroxisomal acyl-CoA synthetase participating in lipid metabolism
PMID: 22366061
Disease Associationsβ“˜21
ichthyosis prematurity syndromeOpen Targets
0.81Strong
neurodegenerative diseaseOpen Targets
0.49Moderate
genetic disorderOpen Targets
0.47Moderate
lamellar ichthyosisOpen Targets
0.41Moderate
autosomal recessive diseaseOpen Targets
0.37Weak
hypertensionOpen Targets
0.24Weak
obesityOpen Targets
0.23Weak
response to xenobiotic stimulusOpen Targets
0.22Weak
neoplasmOpen Targets
0.09Suggestive
congenital non-bullous ichthyosiform erythrodermaOpen Targets
0.08Suggestive
focal palmoplantar and gingival keratodermaOpen Targets
0.08Suggestive
ichthyosis, lamellar, autosomal dominantOpen Targets
0.08Suggestive
breast cancerOpen Targets
0.08Suggestive
erythrokeratodermia variabilisOpen Targets
0.08Suggestive
keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndromeOpen Targets
0.08Suggestive
palmoplantar keratoderma, nonepidermolytic, focal 1Open Targets
0.07Suggestive
Keratoderma hereditarium mutilans with ichthyosisOpen Targets
0.07Suggestive
epidermolytic hyperkeratosis 2A, autosomal dominantOpen Targets
0.07Suggestive
superficial epidermolytic ichthyosisOpen Targets
0.07Suggestive
punctate palmoplantar keratoderma type IIIOpen Targets
0.07Suggestive
Ichthyosis prematurity syndromeUniProt
Pathogenic Variants50
NM_005094.4(SLC27A4):c.504C>A (p.Cys168Ter)Pathogenic
Ichthyosis prematurity syndrome|not provided|Autosomal recessive congenital ichthyosis
β˜…β˜…β˜†β˜†2025β†’ Residue 168
NM_005094.4(SLC27A4):c.1430T>A (p.Val477Asp)Pathogenic
not provided|Ichthyosis prematurity syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 477
NM_005094.4(SLC27A4):c.1628-1G>ALikely pathogenic
not provided|Ichthyosis prematurity syndrome|Lamellar ichthyosis
β˜…β˜…β˜†β˜†2025
NM_005094.4(SLC27A4):c.1A>G (p.Met1Val)Pathogenic
not provided|Ichthyosis prematurity syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 1
NM_005094.4(SLC27A4):c.1447C>T (p.Gln483Ter)Pathogenic
not provided|Ichthyosis prematurity syndrome
β˜…β˜…β˜†β˜†2024β†’ Residue 483
NM_005094.4(SLC27A4):c.899A>G (p.Gln300Arg)Pathogenic
Ichthyosis prematurity syndrome|not provided|Lamellar ichthyosis
β˜…β˜…β˜†β˜†2024β†’ Residue 300
NM_005094.4(SLC27A4):c.1504C>T (p.Arg502Ter)Pathogenic
not provided|Lamellar ichthyosis|Ichthyosis prematurity syndrome
β˜…β˜…β˜†β˜†2024β†’ Residue 502
NM_005094.4(SLC27A4):c.1065del (p.Arg356fs)Pathogenic
Ichthyosis prematurity syndrome|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 356
NM_005094.4(SLC27A4):c.556+2T>GPathogenic
Inborn genetic diseases|not provided
β˜…β˜…β˜†β˜†2023
NM_005094.4(SLC27A4):c.1799_1800del (p.Glu600fs)Pathogenic
Ichthyosis prematurity syndrome
β˜…β˜…β˜†β˜†2020β†’ Residue 600
NM_005094.4(SLC27A4):c.1322dup (p.Gly442fs)Pathogenic
Ichthyosis prematurity syndrome|not provided
β˜…β˜†β˜†β˜†2026β†’ Residue 442
NM_005094.4(SLC27A4):c.916_919del (p.Met306fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 306
NM_005094.4(SLC27A4):c.716-1G>ALikely pathogenic
Ichthyosis prematurity syndrome
β˜…β˜†β˜†β˜†2024
NM_005094.4(SLC27A4):c.786-2A>GLikely pathogenic
Ichthyosis prematurity syndrome
β˜…β˜†β˜†β˜†2024
NM_005094.4(SLC27A4):c.1579dup (p.Arg527fs)Likely pathogenic
Ichthyosis prematurity syndrome
β˜…β˜†β˜†β˜†2024β†’ Residue 527
NM_005094.4(SLC27A4):c.199C>T (p.Arg67Ter)Likely pathogenic
Ichthyosis prematurity syndrome
β˜…β˜†β˜†β˜†2024β†’ Residue 67
NM_005094.4(SLC27A4):c.898C>T (p.Gln300Ter)Likely pathogenic
Ichthyosis prematurity syndrome
β˜…β˜†β˜†β˜†2024β†’ Residue 300
NM_005094.4(SLC27A4):c.1104G>A (p.Trp368Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 368
NM_005094.4(SLC27A4):c.28dup (p.Val10fs)Likely pathogenic
Ichthyosis prematurity syndrome
β˜…β˜†β˜†β˜†2024β†’ Residue 10
NM_005094.4(SLC27A4):c.987+2T>CLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2024
View on ClinVar β†—
Related Genes
SCARB1Protein interaction87%AASDHProtein interaction84%SCARB2Protein interaction82%PPARAProtein interaction80%SLC27A1Protein interaction78%NIPAL4Protein interaction73%
Tissue Expression6 tissues
Liver
100%
Brain
56%
Heart
46%
Lung
37%
Ovary
24%
Bone Marrow
15%
Gene Interaction Network
Click a node to explore
SLC27A4SCARB1AASDHSCARB2PPARASLC27A1NIPAL4
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q6P1M0
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.66LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.49 [0.37–0.66]
RankingsWhere SLC27A4 stands among ~20K protein-coding genes
  • #3,775of 20,598
    Most Researched125 Β· top quartile
  • #1,333of 5,498
    Most Pathogenic Variants50 Β· top quartile
  • #4,837of 17,882
    Most Constrained (LOEUF)0.66
Genes detectedSLC27A4
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
PLIN5 interacts with FATP4 at membrane contact sites to promote lipid droplet-to-mitochondria fatty acid transport.
PMID: 37290445
Dev Cell Β· 2023
1.00
2
Hepatocyte-specific SLC27A4 deletion ameliorates nonalcoholic fatty liver disease in mice via suppression of phosphatidylcholine-mediated PXR activation.
PMID: 39489412
Metabolism Β· 2025
0.90
3
Peroxisomal acyl-CoA synthetases.
PMID: 22366061
Biochim Biophys Acta Β· 2012
0.80
4
SLC27A4 regulate ATG4B activity and control reactions to chemotherapeutics-induced autophagy in human lung cancer cells.
PMID: 26662804
Tumour Biol Β· 2016
0.70
5
SLC gene mutations and pediatric neurological disorders: diverse clinical phenotypes in a Saudi Arabian population.
PMID: 34797406
Hum Genet Β· 2022
0.60