ALOXE3 arachidonate epidermal lipoxygenase 3

Gene ID: 59344, updated on 4-Jan-2025
Gene type: protein coding
Also known as: LI5; ARCI3; E-LOX; eLOX3; eLOX-3

Summary

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]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Autosomal recessive congenital ichthyosis 2 MedGen: C3888093OMIM: 242100GeneReviews: Autosomal Recessive Congenital Ichthyosis	See labs
Autosomal recessive congenital ichthyosis 3 MedGen: C3539888OMIM: 606545GeneReviews: Not available	See labs

Genomic context

Location:: 17p13.1

Sequence:: Chromosome: 17; NC_000017.11 (8095900..8118916, complement)

Total number of exons:: 19

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for ALOXE3 variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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