SLC27A4
Chr 9ARsolute carrier family 27 member 4
Also known as: ACSVL4, FATP4, IPS
This gene encodes a fatty acid transport protein that facilitates the transport of long-chain fatty acids across cell membranes and functions as an acyl-CoA ligase, serving as the principal fatty acid transporter in small intestinal enterocytes and playing a role in epidermal barrier formation. Mutations cause ichthyosis prematurity syndrome, which affects the skin and occurs in the neonatal period as suggested by the name. The condition follows autosomal recessive inheritance.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
300 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 10 | 0 | 8 | 0 | 18 |
Likely Pathogenic | 9 | 2 | 1 | 0 | 12 |
VUS | 1 | 82 | 4 | 0 | 87 |
Likely Benign | 0 | 3 | 65 | 101 | 169 |
Benign | 0 | 0 | 1 | 0 | 1 |
| Total | 20 | 87 | 79 | 101 | 287 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
SLC27A4 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools