ALOX12B Chromosome 17
Arachidonate 12-lipoxygenase, 12R type
Upload your DNA to see your personal genotypes for variants in ALOX12B.
What This Gene Does
This gene encodes an enzyme involved in the conversion of arachidonic acid to 12R-hydroxyeicosatetraenoic acid. Mutations in this gene are associated with nonbullous congenital ichthyosiform erythroderma. [provided by RefSeq, Sep 2015]
Gene Info
Gene Group
Arachidonate lipoxygenases
Locus Type
gene with protein product
Location
17p13.1
Ensembl
ENSG00000179477
Associated Conditions (11)
Autosomal recessive congenital ichthyosis 2
ALOX12B-related disorder
Inborn genetic diseases
Lamellar ichthyosis
Autosomal recessive congenital ichthyosis
Palmoplantar keratodermas
Ichthyosis and erythrokeratoderma
Ichthyosis
See cases
Congenital ichthyosiform erythroderma
Congenital nonbullous ichthyosiform erythroderma
Key Variants
RS1028050037
Conflicting classifications of pathogenicity
Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2
Health Risk
RS117483056
Conflicting classifications of pathogenicity
Autosomal recessive congenital ichthyosis 2, ALOX12B-related disorder, Autosomal recessive congenital ichthyosis 2
Health Risk
RS1221632429
Conflicting classifications of pathogenicity
Health Risk
RS1333287390
Conflicting classifications of pathogenicity
Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2
Health Risk
RS1336910973
Conflicting classifications of pathogenicity
Health Risk
RS138729161
Conflicting classifications of pathogenicity
ALOX12B-related disorder, ALOX12B-related disorder
Health Risk
RS140306846
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS145046775
Conflicting classifications of pathogenicity
Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2
Health Risk
RS145344421
Conflicting classifications of pathogenicity
Autosomal recessive congenital ichthyosis 2, ALOX12B-related disorder, Autosomal recessive congenital ichthyosis 2
Health Risk
RS146260899
Conflicting classifications of pathogenicity
Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2
Health Risk
RS1567985822
Conflicting classifications of pathogenicity
Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2
Health Risk
RS1977160529
Conflicting classifications of pathogenicity
Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2
Health Risk
All Variants (151)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1977172596 | Health Risk | Pathogenic | Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2 |
| RS1977184377 | Health Risk | Pathogenic | Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2 |
| RS1977185603 | Health Risk | Pathogenic | Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2 |
| RS1977196635 | Health Risk | Pathogenic | Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2 |
| RS1978296625 | Health Risk | Pathogenic | Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2 |
| RS1978296717 | Health Risk | Pathogenic | Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2 |
| RS1978297341 | Health Risk | Pathogenic | Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2 |
| RS1978297429 | Health Risk | Pathogenic | Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2 |
| RS1978297441 | Health Risk | Pathogenic | Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2 |
| RS1978304609 | Health Risk | Pathogenic | Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2 |
| RS1978304974 | Health Risk | Pathogenic | Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2 |
| RS1978305028 | Health Risk | Pathogenic | Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2 |
| RS199766569 | Health Risk | Pathogenic | Autosomal recessive congenital ichthyosis 2, Ichthyosis, Lamellar ichthyosis |
| RS201543289 | Health Risk | Pathogenic | Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2 |
| RS2151821013 | Health Risk | Pathogenic | — |
| RS2151823018 | Health Risk | Pathogenic | — |
| RS2507691699 | Health Risk | Pathogenic | — |
| RS371537819 | Health Risk | Pathogenic | Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2 |
| RS387906349 | Health Risk | Pathogenic | Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2 |
| RS397514528 | Health Risk | Pathogenic | Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2 |
| RS397514529 | Health Risk | Pathogenic | Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2 |
| RS397514533 | Health Risk | Pathogenic | Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2 |
| RS536446862 | Health Risk | Pathogenic | Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2 |
| RS745366046 | Health Risk | Pathogenic | Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2 |
| RS746723399 | Health Risk | Pathogenic | Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2 |
| RS757224692 | Health Risk | Pathogenic | — |
| RS763328506 | Health Risk | Pathogenic | Autosomal recessive congenital ichthyosis 2, Lamellar ichthyosis, Autosomal recessive congenital ichthyosis 2 |
| RS763468558 | Health Risk | Pathogenic | Autosomal recessive congenital ichthyosis 2, Lamellar ichthyosis, ALOX12B-related disorder |
| RS773052129 | Health Risk | Pathogenic | Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2 |
| RS774958790 | Health Risk | Pathogenic | Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2 |
| RS775524204 | Health Risk | Pathogenic | Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2 |
| RS780867565 | Health Risk | Pathogenic | Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2 |
| RS781409869 | Health Risk | Pathogenic | — |
| RS886039307 | Health Risk | Pathogenic | — |
| RS886041394 | Health Risk | Pathogenic | — |
| RS959284348 | Health Risk | Pathogenic | Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2 |
| RS1478989829 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2 |
| RS1555643304 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2 |
| RS1555643912 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS1567982673 | Health Risk | Pathogenic/Likely pathogenic | Lamellar ichthyosis, Lamellar ichthyosis |
| RS199545653 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive congenital ichthyosis 2, Ichthyosis and erythrokeratoderma, Autosomal recessive congenital ichthyosis 2 |
| RS201575829 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive congenital ichthyosis 2, Lamellar ichthyosis, Autosomal recessive congenital ichthyosis 2 |
| RS202128350 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2 |
| RS2151820983 | Health Risk | Pathogenic/Likely pathogenic | Lamellar ichthyosis, Autosomal recessive congenital ichthyosis 2, Lamellar ichthyosis |
| RS397514526 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2 |
| RS397514527 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2 |
| RS397514532 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive congenital ichthyosis 2, Congenital ichthyosiform erythroderma, Congenital nonbullous ichthyosiform erythroderma |
| RS752509098 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive congenital ichthyosis 2, Lamellar ichthyosis, Autosomal recessive congenital ichthyosis 2 |
| RS759653224 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2 |
| RS760428119 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2 |