ACOX1

acyl-CoA oxidase 1

Summary

The protein encoded by this gene is the first enzyme of the fatty acid beta-oxidation pathway, which catalyzes the desaturation of acyl-CoAs to 2-trans-enoyl-CoAs. It donates electrons directly to molecular oxygen, thereby producing hydrogen peroxide. Defects in this gene result in pseudoneonatal adrenoleukodystrophy, a disease that is characterized by accumulation of very long chain fatty acids. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

Known Variants689 total

rsidPosition (GRCh37)AllelesClassClinVar
rs364317:73,937,665T/C—benign
rs11630957517:73,937,695T/C—likely benign
rs7335571217:73,937,705T/C—benign
rs88605343017:73,937,712T/G—uncertain significance
rs37178217917:73,937,737T/C—uncertain significance
rs53214842517:73,937,792A/G—uncertain significance
rs147721297717:73,937,801A/C—uncertain significance
rs77873815317:73,937,829C/A—uncertain significance
rs88605343117:73,937,953G/A—uncertain significance
rs93889952117:73,938,009A/G—uncertain significance
rs75826027617:73,938,023T/C—uncertain significance
rs77739678217:73,938,063C/T—uncertain significance
rs88605343217:73,938,239C/T—uncertain significance
rs14599274217:73,938,244G/A—benign
rs88605343317:73,938,250G/A—uncertain significance
rs13993685017:73,938,278G/A—likely benign
rs55312730417:73,938,313C/T—uncertain significance
rs721228717:73,938,339T/C—benign
rs125134565317:73,938,340G/A—uncertain significance
rs54255321517:73,938,345T/C—uncertain significance
rs720765617:73,938,385C/T—benign
rs88605343417:73,938,389G/A—uncertain significance
rs206567918117:73,938,442C/G—uncertain significance
rs88605343517:73,938,483C/G—uncertain significance
rs7990038417:73,938,533G/T—benign
rs15064716517:73,938,570G/A—uncertain significance
rs11254181517:73,938,579A/C—likely benign
rs57720782017:73,938,790C/A—uncertain significance
rs53693856717:73,938,808G/A—uncertain significance
rs14977460517:73,938,841T/A—likely benign
rs102087291717:73,938,885C/T—uncertain significance
rs1696833317:73,938,886G/A—benign
rs55948574817:73,938,914G/A—uncertain significance
rs260888017:73,938,957C/T—benign
rs119301418717:73,939,050T/C—uncertain significance
rs36975983217:73,939,164G/A—uncertain significance
rs100151461917:73,939,201G/A—uncertain significance
rs88605343817:73,939,208G/C—uncertain significance
rs105621682017:73,939,253A/C—uncertain significance
rs19219122517:73,939,278C/T—uncertain significance
rs100529916217:73,939,408A/G—uncertain significance
rs74576093117:73,939,484G/T—uncertain significance
rs14255398617:73,939,601A/C—benign
rs91493680917:73,939,622A/G—uncertain significance
rs95112823017:73,939,724G/A—uncertain significance
rs18471934417:73,939,769A/G—uncertain significance
rs7399767017:73,939,852G/A—benign
rs18633401417:73,939,860T/C—uncertain significance
rs206569596017:73,939,903A/G—uncertain significance
rs93609262417:73,939,942G/C—uncertain significance
rs15029563817:73,939,954G/A—uncertain significance
rs91488382817:73,939,986T/C—uncertain significance
rs991597317:73,940,058T/G—benign
rs105189973017:73,940,083G/A—uncertain significance
rs77732472217:73,940,092G/A—uncertain significance
rs56318234517:73,940,093C/T—uncertain significance
rs98390362317:73,940,130G/C—uncertain significance
rs55055502917:73,940,141G/A—uncertain significance
rs56624153517:73,940,185C/T—uncertain significance
rs88605344117:73,940,186G/A—uncertain significance
rs57053890117:73,940,204A/G—uncertain significance
rs206569893117:73,940,245G/T—uncertain significance
rs11514124617:73,940,254A/G—likely benign
rs55693573917:73,940,270C/G—uncertain significance
rs56275501417:73,940,378T/C—uncertain significance
rs54119259417:73,940,562T/C—uncertain significance
rs88605344217:73,940,590T/A—uncertain significance
rs53972647817:73,940,594C/G—uncertain significance
rs127934960517:73,940,808G/A—uncertain significance
rs127173476617:73,940,844G/A—uncertain significance
rs14109766017:73,940,852G/A—benign
rs88605344417:73,940,891G/A—uncertain significance
rs37349993917:73,940,976A/G—uncertain significance
rs14489910417:73,941,016G/A—likely benign
rs54832559117:73,941,020T/C—uncertain significance
rs53562725617:73,941,073C/T—uncertain significance
rs53090522317:73,941,086C/G—uncertain significance
rs19135219417:73,941,091T/C—uncertain significance
rs18597154317:73,941,151G/A—uncertain significance
rs19043451017:73,941,371T/C—uncertain significance
rs88605344617:73,941,395G/A—uncertain significance
rs13864786717:73,941,398T/C—uncertain significance
rs88605344717:73,941,449A/G—uncertain significance
rs54583182317:73,941,553T/C—uncertain significance
rs128024370617:73,941,657T/A—uncertain significance
rs54543913517:73,941,703T/C—uncertain significance
rs37115419117:73,941,733G/C—uncertain significance
rs88605344817:73,941,746G/A—uncertain significance
rs88605344917:73,941,795A/C—uncertain significance
rs88605345017:73,941,806T/G—uncertain significance
rs86774100717:73,941,808G/T—uncertain significance
rs57309949217:73,941,815T/C—uncertain significance
rs206571468317:73,941,870A/T—uncertain significance
rs76239805317:73,941,897A/G—uncertain significance
rs1243017:73,941,955G/A—benign
rs99750115717:73,941,989T/A—uncertain significance
rs88605345117:73,942,064C/T—uncertain significance
rs88605345217:73,942,073C/T—uncertain significance
rs56193198517:73,942,108T/C—uncertain significance
rs53104112817:73,942,109G/A—uncertain significance

Showing 100 of 689 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.