ALOX5

Chr 10AD

arachidonate 5-lipoxygenase

Also known as: 5-LO, 5-LOX, 5LPG, LOG5

NCBI Gene: 240 ENSG00000012779 UniProt: P09917 OMIM: 152390

The protein catalyzes the conversion of arachidonic acid to leukotriene A4, the first two steps in leukotriene biosynthesis, and also participates in the synthesis of specialized pro-resolving mediators that have anti-inflammatory effects. Mutations are associated with diminished response to antileukotriene drugs in asthma treatment and susceptibility to atherosclerosis, following an autosomal dominant inheritance pattern. The gene shows high constraint against loss-of-function variants (LOEUF 0.636), indicating that complete loss of function is likely deleterious.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

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]

OMIM ResearchGenerating clinical summary…