ALOXE3
Chr 17ARarachidonate epidermal lipoxygenase 3
The protein is a hydroperoxide isomerase that synthesizes epoxy-alcohol derivatives from fatty acid precursors and plays a crucial role in establishing the skin barrier by modifying ceramides in the lipid envelope of skin cells. Mutations cause congenital ichthyosis with autosomal recessive inheritance, presenting as scaling and erythroderma from birth due to impaired skin barrier function. The gene shows low constraint against loss-of-function variants (LOEUF 1.055), consistent with the recessive inheritance pattern where heterozygous carriers are typically unaffected.
Some data sources returned errors (1)
ncbi: Error: NCBI fetch failed: 429 https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esearch.fcgi
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
ALOXE3 · 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