CERS3
Chr 15ARceramide synthase 3
Also known as: ARCI9, LASS3
This protein functions as a ceramide synthase that catalyzes the formation of ultra-long-chain ceramides from sphingoid bases and acyl-CoA substrates, which are essential for maintaining epidermal lipid homeostasis and the skin's protective barrier function. Mutations cause autosomal recessive congenital ichthyosis, characterized by epidermal defects due to impaired skin barrier formation. The gene shows low constraint against loss-of-function variants (pLI 0.006), consistent with its recessive inheritance pattern where heterozygous carriers are typically unaffected.
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
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
CERS3 · 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