ALOX12B
Chr 17ARarachidonate 12-lipoxygenase, 12R type
Also known as: 12R-LOX, ARCI2
The protein catalyzes the incorporation of oxygen into polyunsaturated fatty acids and plays a crucial role in skin barrier formation by acting on ceramides to synthesize the corneocyte lipid envelope. Mutations cause autosomal recessive congenital ichthyosiform erythroderma, a severe skin disorder present from birth characterized by scaling and redness. The gene shows low constraint against loss-of-function variants (pLI 0.0008, LOEUF 0.55), consistent with the recessive inheritance pattern.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
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
473 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 | 53 | 49 | 24 | 0 | 126 |
Likely Pathogenic | 17 | 26 | 2 | 0 | 45 |
VUS | 0 | 137 | 30 | 8 | 175 |
Likely Benign | 0 | 4 | 22 | 25 | 51 |
Benign | 0 | 1 | 33 | 4 | 38 |
Conflicting | — | 31 | |||
| Total | 70 | 217 | 111 | 37 | 466 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
ALOX12B · 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