ALOXE3

arachidonate epidermal lipoxygenase 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]

Known Variants224 total

rsidPosition (GRCh37)AllelesClassClinVar
rs88605357917:7,999,252C/A—uncertain significance
rs88605358017:7,999,276A/C—uncertain significance
rs97124927717:7,999,291G/A—uncertain significance
rs88605358117:7,999,304G/A—uncertain significance
rs54981319817:7,999,327A/G—uncertain significance
rs14174558017:7,999,407C/T—uncertain significance
rs197852575617:7,999,422T/C—uncertain significance
rs8022372217:7,999,431A/C—uncertain significance
rs197852852917:7,999,464C/T—uncertain significance
rs53382783417:7,999,479C/T—uncertain significance
rs18841920217:7,999,553C/T—likely benign
rs8011512917:7,999,554G/T—benign
rs380988217:7,999,589G/T—benign
rs55626120917:7,999,601G/A—uncertain significance
rs88605358217:7,999,631A/T—uncertain significance
rs18074079817:7,999,683G/A—uncertain significance
rs88605358317:7,999,723G/C—uncertain significance
rs74579387117:7,999,784G/A—uncertain significance
rs7560555117:7,999,834A/G—benign
rs7544880817:7,999,858G/A—likely benign
rs11134269517:7,999,921T/C—benign
rs53130651417:7,999,944G/T—likely benign
rs96743862617:7,999,956C/T—uncertain significance
rs380988117:7,999,957G/A—benign
rs13851132717:7,999,967A/G—likely benign
rs14919690317:8,000,001C/G—uncertain significance
rs131196760617:8,000,016G/A—pathogenic
rs76242483917:8,000,040G/A—uncertain significance
rs14332334617:8,000,048C/T—conflicting classifications of pathogenicity
rs14324650317:8,000,049G/A—benign
rs14829524417:8,000,062G/A—benign
rs14188263917:8,000,073G/A—conflicting classifications of pathogenicity
rs76248470917:8,000,097G/A—uncertain significance
rs76045477617:8,000,118G/C—uncertain significance
rs302728417:8,006,419T/G—benign
rs37303243817:8,006,630C/T—likely benign
rs116328086617:8,006,643G/A—pathogenic
rs250773431117:8,006,660C/G—uncertain significance
rs76382160317:8,006,670A/C—uncertain significance
rs14714945917:8,006,708G/Amissense variantpathogenic
rs14628003217:8,006,726G/A—conflicting classifications of pathogenicity
rs56869560117:8,006,785A/T—pathogenic
rs76657883617:8,006,786T/C—uncertain significance
rs144301092817:8,006,795C/A—uncertain significance
rs13937585617:8,006,813T/Csplice region variantpathogenic
rs14860634317:8,006,821C/T—likely benign
rs7979699317:8,006,898G/A—benign
rs11720673717:8,007,005T/C—benign
rs302728817:8,007,416G/T—benign
rs93667964617:8,007,441T/C—uncertain significance
rs14406910417:8,007,454G/A—uncertain significance
rs14866437017:8,007,470T/C—uncertain significance
rs37165208217:8,007,506C/A—uncertain significance
rs19973168017:8,007,508T/C—uncertain significance
rs14213667217:8,007,512G/T—uncertain significance
rs77578672817:8,007,522G/A—uncertain significance
rs77724085817:8,007,535T/C—likely pathogenic
rs37371560117:8,007,536G/C—uncertain significance
rs228958717:8,007,650T/C—benign
rs228958817:8,007,683C/T—benign
rs302720017:8,011,526C/A—benign
rs76316727417:8,011,781G/A—uncertain significance
rs75915547517:8,011,797C/T—uncertain significance
rs125738472017:8,011,833C/G—uncertain significance
rs96378227917:8,011,835G/A—uncertain significance
rs78163162917:8,011,840G/A—pathogenic
rs13945420917:8,011,844C/T—conflicting classifications of pathogenicity
rs14499687717:8,011,867C/T—conflicting classifications of pathogenicity
rs14774879917:8,011,872C/T—uncertain significance
rs75333136817:8,011,875G/C—uncertain significance
rs76514839217:8,011,884T/C—uncertain significance
rs56863829117:8,011,885A/G—uncertain significance
rs120044754217:8,011,897C/A—pathogenic
rs14111557717:8,011,909T/C—likely pathogenic
rs215183733217:8,012,024G/A—benign
rs7324178617:8,012,459G/A—benign
rs11515982917:8,012,476G/T—benign
rs75728906317:8,012,488G/T—likely benign
rs77260897817:8,012,499T/C—conflicting classifications of pathogenicity
rs302720517:8,012,511T/C—benign
rs37046252217:8,012,512C/T—conflicting classifications of pathogenicity
rs75470194117:8,012,529G/A—likely pathogenic
rs36842889717:8,012,547T/C—uncertain significance
rs14583809917:8,012,551C/G—conflicting classifications of pathogenicity
rs132951233317:8,012,555A/C—uncertain significance
rs12143423217:8,012,556C/Amissense variantpathogenic
rs75055364417:8,012,559C/T—uncertain significance
rs37508069517:8,012,562G/A—uncertain significance
rs86778031917:8,012,568G/A—uncertain significance
rs146501181517:8,012,601T/G—uncertain significance
rs250777151017:8,012,607G/T—uncertain significance
rs36801217417:8,012,622T/G—conflicting classifications of pathogenicity
rs197980743117:8,012,662C/T—pathogenic
rs11289281817:8,013,028G/A—benign
rs7660601117:8,013,197G/C—benign
rs15125688517:8,013,217C/T—benign
rs197988105617:8,013,232A/T—likely pathogenic
rs75701075817:8,013,261C/T—conflicting classifications of pathogenicity
rs146258032417:8,013,276G/A—likely benign
rs57536510317:8,013,280G/C—uncertain significance

Showing 100 of 224 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.