ALOXE3 Chromosome 17
Arachidonate epidermal lipoxygenase 3
Upload your DNA to see your personal genotypes for variants in ALOXE3.
What This Gene Does
This gene is a member of the lipoxygenase family, which are catabolized by arachidonic acid-derived compounds. The encoded enzyme is a hydroperoxide isomerase that synthesizes a unique type of epoxy alcohol (8R-hydroxy-11R,12R-epoxyeicosa-5Z,9E,14Z-trienoic acid) from 12R-hydroperoxyeicosatetraenoic acid (12R-HPETE). This epoxy alcohol can activate the the nuclear receptor peroxisome proliferator-activated receptor alpha (PPARalpha), which is implicated in epidermal differentiation. Loss of function of the enzyme encoded by this gene results in ichthyosis, implicating the function of this gene in the differentiation of human skin. This gene is part of a cluster of lipoxygenase genes on 17p13.1. Mutations in this gene result in nonbullous congenital ichthyosiform erythroderma (NCIE). Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]
Gene Info
Gene Group
Arachidonate lipoxygenases
Locus Type
gene with protein product
Location
17p13.1
Ensembl
ENSG00000179148
Associated Conditions (10)
Autosomal recessive congenital ichthyosis 3
ALOXE3-related disorder
Ichthyosis and erythrokeratoderma
Inborn genetic diseases
Autosomal recessive congenital ichthyosis 2
Lamellar ichthyosis
Autosomal recessive congenital ichthyosis
Ichthyosis
Trichohepatoenteric syndrome 2
Congenital nonbullous ichthyosiform erythroderma
Key Variants
RS113030871
Conflicting classifications of pathogenicity
Autosomal recessive congenital ichthyosis 3, Autosomal recessive congenital ichthyosis 3
Health Risk
RS139454209
Conflicting classifications of pathogenicity
Autosomal recessive congenital ichthyosis 3, Autosomal recessive congenital ichthyosis 3
Health Risk
RS141882639
Conflicting classifications of pathogenicity
Autosomal recessive congenital ichthyosis 3, Autosomal recessive congenital ichthyosis 3
Health Risk
RS142136672
Conflicting classifications of pathogenicity
Autosomal recessive congenital ichthyosis 3, ALOXE3-related disorder, Autosomal recessive congenital ichthyosis 3
Health Risk
RS142479006
Conflicting classifications of pathogenicity
ALOXE3-related disorder, ALOXE3-related disorder
Health Risk
RS142781546
Conflicting classifications of pathogenicity
Autosomal recessive congenital ichthyosis 3, Ichthyosis and erythrokeratoderma, Autosomal recessive congenital ichthyosis 3
Health Risk
RS143323346
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS144996877
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS145838099
Conflicting classifications of pathogenicity
Autosomal recessive congenital ichthyosis 3, Autosomal recessive congenital ichthyosis 3
Health Risk
RS146280032
Conflicting classifications of pathogenicity
Autosomal recessive congenital ichthyosis 3, Inborn genetic diseases, Autosomal recessive congenital ichthyosis 3
Health Risk
RS199981318
Conflicting classifications of pathogenicity
Autosomal recessive congenital ichthyosis 3, Autosomal recessive congenital ichthyosis 3
Health Risk
RS201269701
Conflicting classifications of pathogenicity
Autosomal recessive congenital ichthyosis 3, Autosomal recessive congenital ichthyosis 3
Health Risk
All Variants (77)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1979055447 | Health Risk | Pathogenic | Autosomal recessive congenital ichthyosis 3, Autosomal recessive congenital ichthyosis 3 |
| RS1979055873 | Health Risk | Pathogenic | Autosomal recessive congenital ichthyosis 3, Autosomal recessive congenital ichthyosis 3 |
| RS1979807431 | Health Risk | Pathogenic | Autosomal recessive congenital ichthyosis 3, Autosomal recessive congenital ichthyosis 3 |
| RS1979909742 | Health Risk | Pathogenic | Autosomal recessive congenital ichthyosis 3, Autosomal recessive congenital ichthyosis 3 |
| RS1979917479 | Health Risk | Pathogenic | Autosomal recessive congenital ichthyosis 3, Autosomal recessive congenital ichthyosis 3 |
| RS1979924544 | Health Risk | Pathogenic | Autosomal recessive congenital ichthyosis 3, Autosomal recessive congenital ichthyosis 3 |
| RS1979931284 | Health Risk | Pathogenic | Autosomal recessive congenital ichthyosis 3, Autosomal recessive congenital ichthyosis 3 |
| RS1979966591 | Health Risk | Pathogenic | Autosomal recessive congenital ichthyosis 3, Autosomal recessive congenital ichthyosis 3 |
| RS1980084767 | Health Risk | Pathogenic | Autosomal recessive congenital ichthyosis 3, Autosomal recessive congenital ichthyosis 3 |
| RS1980145171 | Health Risk | Pathogenic | Autosomal recessive congenital ichthyosis 3, Autosomal recessive congenital ichthyosis 3 |
| RS1980522554 | Health Risk | Pathogenic | Autosomal recessive congenital ichthyosis 3, Autosomal recessive congenital ichthyosis 3 |
| RS1980627156 | Health Risk | Pathogenic | Autosomal recessive congenital ichthyosis 3, Autosomal recessive congenital ichthyosis 3 |
| RS1980629564 | Health Risk | Pathogenic | Autosomal recessive congenital ichthyosis 3, Autosomal recessive congenital ichthyosis 3 |
| RS1980748884 | Health Risk | Pathogenic | Autosomal recessive congenital ichthyosis 3, Autosomal recessive congenital ichthyosis 3 |
| RS2151828026 | Health Risk | Pathogenic | — |
| RS2151838171 | Health Risk | Pathogenic | Autosomal recessive congenital ichthyosis 3, Autosomal recessive congenital ichthyosis 3 |
| RS2507765273 | Health Risk | Pathogenic | — |
| RS367827093 | Health Risk | Pathogenic | Autosomal recessive congenital ichthyosis 3, Autosomal recessive congenital ichthyosis 3 |
| RS370031870 | Health Risk | Pathogenic | Autosomal recessive congenital ichthyosis 3, Ichthyosis, Lamellar ichthyosis |
| RS568695601 | Health Risk | Pathogenic | Autosomal recessive congenital ichthyosis 3, Autosomal recessive congenital ichthyosis 3 |
| RS764781178 | Health Risk | Pathogenic | Autosomal recessive congenital ichthyosis 3, Lamellar ichthyosis, Trichohepatoenteric syndrome 2 |
| RS765682032 | Health Risk | Pathogenic | Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 3, Autosomal recessive congenital ichthyosis 2 |
| RS767046669 | Health Risk | Pathogenic | Autosomal recessive congenital ichthyosis 3, Autosomal recessive congenital ichthyosis 3 |
| RS769980324 | Health Risk | Pathogenic | Autosomal recessive congenital ichthyosis 3, Autosomal recessive congenital ichthyosis 3 |
| RS781631629 | Health Risk | Pathogenic | Lamellar ichthyosis, Congenital nonbullous ichthyosiform erythroderma, Lamellar ichthyosis |
| RS1311967606 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive congenital ichthyosis 2, Lamellar ichthyosis, Autosomal recessive congenital ichthyosis 2 |
| RS745480657 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive congenital ichthyosis 3, Autosomal recessive congenital ichthyosis 3 |