SLC27A4 (Solute Carrier Family 27 Member 4)
Fatty acid transport protein 4 (FATP4) - key regulator of long-chain fatty acid uptake and metabolism
Gene Information Card
| Symbol | SLC27A4 |
|---|---|
| Full Name | Solute Carrier Family 27 Member 4 |
| Gene Type | Protein coding |
| Chromosomal Location | 9q34.11 |
| NCBI Gene ID | 10999 ncbi.nlm.nih.gov/gene/10999 |
| Ensembl ID | ENSG00000107104 |
| UniProt ID | Q6P1M0 |
| OMIM ID | 604194 |
| HGNC ID | 10997 |
| Aliases | FATP4, ACSVL5, MGC71737 |
Description
SLC27A4 encodes fatty acid transport protein 4 (FATP4), a member of the solute carrier family 27. FATP4 is a transmembrane protein that facilitates the uptake of long-chain and very long-chain fatty acids into cells. It also exhibits acyl-CoA synthetase activity, converting fatty acids to acyl-CoAs for lipid synthesis and β-oxidation. Mutations in SLC27A4 cause Ichthyosis Prematurity Syndrome (IPS), a rare autosomal recessive disorder characterized by premature birth, ichthyosis, and respiratory complications.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Ichthyosis Prematurity Syndrome (IPS) | Loss-of-function mutations impair fatty acid uptake in skin and lung, leading to defective epidermal barrier and surfactant deficiency. | OMIM #608649; multiple case reports with biallelic SLC27A4 mutations. |
| Non-alcoholic fatty liver disease (NAFLD) | Reduced hepatic FATP4 expression may alter lipid handling; association studies show SNPs linked to steatosis. | ClinVar; GWAS catalog (PMID: 24896252). |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 12.5 | Medium |
| Small intestine | 8.3 | Medium |
| Liver | 6.1 | Low |
| Adipose tissue | 4.7 | Low |
| Lung | 3.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Keratinocytes | 15.2 | High expression; key for epidermal barrier |
| HepG2 | 5.8 | Moderate expression |
| Caco-2 | 7.1 | Intestinal epithelial model |
| 3T3-L1 adipocytes | 4.3 | Differentiated adipocytes |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.504C>A (p.Cys168*) | Nonsense | Rare | Loss of function; truncation of FATP4 |
| c.1135C>T (p.Arg379*) | Nonsense | Rare | Loss of function; premature stop codon |
| c.1441G>A (p.Gly481Arg) | Missense | Rare | Impaired fatty acid uptake activity |
| c.1666C>T (p.Arg556Trp) | Missense | Rare | Reduced acyl-CoA synthetase activity |
Mutation functional classification
Loss of Function (LOF)
Nonsense and missense mutations (e.g., p.Cys168*, p.Arg379*, p.Gly481Arg) reduce or abolish fatty acid transport and/or acyl-CoA synthetase activity, leading to Ichthyosis Prematurity Syndrome.
Gain of Function (GOF)
No gain-of-function mutations reported in SLC27A4.
Dominant Negative (DN)
No dominant-negative effects described; disease is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • long-chain fatty acid transporter activity (GO:0005324) | • long-chain fatty acid-CoA ligase activity (GO:0004467) |
| • fatty acid transport (GO:0015908) | • fatty acid metabolic process (GO:0006631) |
| • integral component of membrane (GO:0016021) |
Pathways
• Fatty acid metabolism (Reactome: R-HSA-8978868)
• PPAR signaling pathway (KEGG: hsa03320)
• Transport of fatty acids (Reactome: R-HSA-381340)
Protein Summary
FATP4 is a 643-amino acid transmembrane protein localized to the endoplasmic reticulum and plasma membrane. It contains an AMP-binding domain and a FATP signature motif. The protein mediates both the transport and activation of long-chain fatty acids (C16-C24). In skin, FATP4 is essential for keratinocyte lipid homeostasis and barrier formation. In intestine and liver, it contributes to dietary fat absorption and hepatic lipid metabolism.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC27A4 Knockout HEK293 Cell Line | EDJ-KQ3094 | Human | 10999 | Details Get a Quote |
| SLC27A4 Knockout A-549 Cell Line | EDJ-KQ24411 | Human | 10999 | Details Get a Quote |
| SLC27A4 Knockout HCT 116 Cell Line | EDJ-KQ24412 | Human | 10999 | Details Get a Quote |
| SLC27A4 Knockout HeLa Cell Line | EDJ-KQ24413 | Human | 10999 | Details Get a Quote |
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