Aliases for ALOX12B Gene
External Ids for ALOX12B Gene
Previous GeneCards Identifiers for ALOX12B Gene
This gene encodes an enzyme involved in the conversion of arachidonic acid to 12R-hydroxyeicosatetraenoic acid. Mutations in this gene are associated with nonbullous congenital ichthyosiform erythroderma. [provided by RefSeq, Sep 2015]
GeneCards Summary for ALOX12B Gene
ALOX12B (Arachidonate 12-Lipoxygenase, 12R Type) is a Protein Coding gene. Diseases associated with ALOX12B include Ichthyosis, Congenital, Autosomal Recessive 2 and Autosomal Recessive Congenital Ichthyosis. Among its related pathways are Arachidonic acid metabolism and Metabolism. Gene Ontology (GO) annotations related to this gene include iron ion binding and arachidonate 12-lipoxygenase activity. An important paralog of this gene is ALOXE3.
UniProtKB/Swiss-Prot Summary for ALOX12B Gene
Catalyzes the regio and stereo-specific incorporation of a single molecule of dioxygen into free and esterified polyunsaturated fatty acids generating lipid hydroperoxides that can be further reduced to the corresponding hydroxy species (PubMed:9837935, PubMed:9618483, PubMed:21558561). In the skin, acts upstream of ALOXE3 on the lineolate moiety of esterified omega-hydroxyacyl-sphingosine (EOS) ceramides to produce an epoxy-ketone derivative, a crucial step in the conjugation of omega-hydroxyceramide to membrane proteins (PubMed:21558561). Therefore plays a crucial role in the synthesis of corneocytes lipid envelope and the establishment of the skin barrier to water loss (PubMed:21558561). May also play a role in the regulation of the expression of airway mucins (PubMed:22441738).