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Article

Hepoxilin A3 (HXA3) synthase deficiency is causative of a novel ichthyosis form.

FEBS letters - 23 Jan 2008

Nigam Santosh, Zafiriou Maria-Patapia, Deva Rupal, Kerstin Nadja, Geilen Christoph, Ciccoli Roberto, Sczepanski Marco, Lohse Maren

Abstract excerpt

Non-bullous congenital ichthyosis erythroderma (NCIE) and lamellar ichthyosis (LI) are characterized by mutations in 12R-lipoxygenase (12R-LOX) and/or epidermal lipoxygenase 3 (eLOX3) enzymes. The eLOX3 lacks oxygenase activity, but is capable of forming hepoxilin-type products from arachidonic a...

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Share to Arachidonate 12-Lipoxygenase
Share to Chromatography, High Pressure Liquid
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Ichthyosiform Erythroderma, Congenital

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Source

Identifiers

PMID: 18086569
DOI: 10.1016/j.febslet.2007.12.017

Genes

LOX

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-18086569-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

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Hepoxilin A3 (HXA3) synthase deficiency is causative of a novel ichthyosis form.PMID 18086569Read ↗

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

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

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 ↗

Harlequin ichthyosis and other autosomal recessive congenital ichthyoses: the underlying genetic defects and pathomechanisms.Semantic proximity Read ↗

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

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