ALOX5
arachidonate 5-lipoxygenase
Summary
This gene encodes a member of the lipoxygenase gene family and plays a dual role in the synthesis of leukotrienes from arachidonic acid. The encoded protein, which is expressed specifically in bone marrow-derived cells, catalyzes the conversion of arachidonic acid to 5(S)-hydroperoxy-6-trans-8,11,14-cis-eicosatetraenoic acid, and further to the allylic epoxide 5(S)-trans-7,9-trans-11,14-cis-eicosatetrenoic acid (leukotriene A4). Leukotrienes are important mediators of a number of inflammatory and allergic conditions. Mutations in the promoter region of this gene lead to a diminished response to antileukotriene drugs used in the treatment of asthma and may also be associated with atherosclerosis and several cancers. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
Known Variants50 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs7913948 | 10:45,868,889 | G/A | regulatory region variant | — |
| rs12762303 | 10:45,869,171 | T/C | regulatory region variant | — |
| rs375546109 | 10:45,869,791 | A/G | — | uncertain significance |
| rs866344948 | 10:45,869,816 | C/T | — | uncertain significance |
| rs61855875 | 10:45,870,306 | G/A | regulatory region variant | — |
| rs1864414 | 10:45,870,561 | T/G | regulatory region variant | — |
| rs547612422 | 10:45,877,990 | C/T | — | likely benign |
| rs182401295 | 10:45,878,017 | C/T | — | likely benign |
| rs2228064 | 10:45,878,050 | G/C | synonymous variant | — |
| rs760078796 | 10:45,878,082 | A/G | — | uncertain significance |
| rs150281723 | 10:45,878,098 | C/T | — | benign |
| rs781714135 | 10:45,878,121 | A/C | — | uncertain significance |
| rs756492997 | 10:45,878,127 | G/A | — | uncertain significance |
| rs369195335 | 10:45,891,307 | G/T | — | uncertain significance |
| rs144514664 | 10:45,891,315 | G/A | — | uncertain significance |
| rs1840481859 | 10:45,891,330 | A/G | — | uncertain significance |
| rs187523060 | 10:45,891,350 | C/T | — | likely benign |
| rs148401371 | 10:45,891,351 | G/A | — | uncertain significance |
| rs199726828 | 10:45,891,368 | C/T | — | uncertain significance |
| rs2029253 | 10:45,891,484 | A/G | intron variant | — |
| rs2115819 | 10:45,901,089 | A/T | — | — |
| rs2492443937 | 10:45,907,680 | C/A | — | uncertain significance |
| rs869025237 | 10:45,907,697 | T/G | — | uncertain significance |
| rs12264801 | 10:45,914,744 | G/A | regulatory region variant | — |
| rs149466736 | 10:45,915,822 | C/G | regulatory region variant | — |
| rs3780901 | 10:45,917,376 | C/G | — | — |
| rs764750532 | 10:45,919,504 | C/G | — | uncertain significance |
| rs369930922 | 10:45,920,420 | A/G | — | uncertain significance |
| rs2228065 | 10:45,920,506 | G/C | missense variant | — |
| rs771424855 | 10:45,920,552 | G/A | — | uncertain significance |
| rs369157831 | 10:45,924,086 | G/A | — | likely benign |
| rs535808410 | 10:45,924,111 | G/A | — | uncertain significance |
| rs28395872 | 10:45,924,153 | G/A | — | uncertain significance |
| rs1177150106 | 10:45,924,221 | C/T | — | likely benign |
| rs78553679 | 10:45,928,386 | G/A | intron variant | — |
| rs2082110 | 10:45,931,070 | A/T | — | — |
| rs146362560 | 10:45,935,892 | G/A | — | not provided |
| rs368161745 | 10:45,935,899 | G/A | — | uncertain significance |
| rs2291427 | 10:45,936,224 | A/G | downstream gene variant | — |
| rs179363899 | 10:45,938,452 | C/T | — | not provided |
| rs2492659445 | 10:45,938,598 | G/A | — | uncertain significance |
| rs747354199 | 10:45,938,639 | C/T | — | uncertain significance |
| rs373272108 | 10:45,938,640 | T/A | — | uncertain significance |
| rs1051713 | 10:45,938,746 | C/T | downstream gene variant | — |
| rs758515927 | 10:45,939,271 | G/A | — | uncertain significance |
| rs577934345 | 10:45,939,633 | G/A | — | uncertain significance |
| rs747669745 | 10:45,941,050 | G/T | — | uncertain significance |
| rs142632017 | 10:45,941,052 | G/A | — | uncertain significance |
| rs780844866 | 10:45,941,109 | C/G | — | uncertain significance |
| rs758477278 | 10:45,941,110 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.