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Article

Lipoxygenase-3 (ALOXE3) and 12(R)-lipoxygenase (ALOX12B) are mutated in non-bullous congenital ichthyosiform erythroderma (NCIE) linked to chromosome 17p13.1.

Human molecular genetics - 1 Jan 2002

Jobard Florence, Lefèvre Caroline, Karaduman Aysen, Blanchet-Bardon Claudine, Emre Serap, Weissenbach Jean, Ozgüc Meral, Lathrop Mark, Prud'homme Jean-François, Fischer Judith

Abstract excerpt

We report the identification of mutations in lipoxygenase-3 (ALOXE3) and 12(R)-lipoxygenase (ALOX12B) genes in non-bullous congenital ichthyosiform erythroderma (NCIE) linked to chromosome 17. Linkage disequilibrium analysis of six families affected by NCIE permitted us to reduce a recently reported interval of 8.4 cM on chromosome 17p13.1 to a 600 kb region around the marker D17S1796, which contains LOX genes....

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Identifiers

PMID: 11773004
DOI: 10.1093/hmg/11.1.107

Genes

ALOXE3
LOX

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Lipoxygenase-3 (ALOXE3) and 12(R)-lipoxygenase (ALOX12B) are mutated in non-bullous congenital ichthyosiform erythroderma (NCIE) linked to chromosome 17p13.1.PMID 11773004Read ↗

Novel mutations in ALOX12B in patients with autosomal recessive congenital ichthyosis and evidence for genetic heterogeneity on chromosome 17p13.Semantic proximity Read ↗

Mutation spectrum and functional analysis of epidermis-type lipoxygenases in patients with autosomal recessive congenital ichthyosis.Semantic proximity Read ↗

Meta-Analysis of Mutations in ALOX12B or ALOXE3 Identified in a Large Cohort of 224 Patients.Semantic proximity Read ↗

Molecular analysis of 250 patients with autosomal recessive congenital ichthyosis: evidence for mutation hotspots in ALOXE3 and allelic heterogeneity in ALOX12B.Semantic proximity Read ↗

Hepoxilin A3 (HXA3) synthase deficiency is causative of a novel ichthyosis form.Semantic proximity Read ↗

Mutations associated with a congenital form of ichthyosis (NCIE) inactivate the epidermal lipoxygenases 12-LOX and eLOX3Semantic proximity Read ↗

The lipoxygenase gene ALOXE3 implicated in skin differentiation encodes a hydroperoxide isomerase.Semantic proximity Read ↗

A mouse mutation in the 12R-lipoxygenase, Alox12b, disrupts formation of the epidermal permeability barrier.Semantic proximity Read ↗

Partially disturbed lamellar granule secretion in mild congenital ichthyosiform erythroderma with ALOX12B mutations.Semantic proximity Read ↗

Aloxe3 knockout mice reveal a function of epidermal lipoxygenase-3 as hepoxilin synthase and its pivotal role in barrier formation.Semantic proximity Read ↗

Development of an ichthyosiform phenotype in Alox12b-deficient mouse skin transplants.Semantic proximity Read ↗

Novel mutations in the genes TGM1 and ALOXE3 underlying autosomal recessive congenital ichthyosis.Semantic proximity Read ↗

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