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 Congenital Ichthyosiform Erythroderma. Among its related pathways are Arachidonic acid metabolism and HETE and HPETE biosynthesis and metabolism. 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 for ALOX12B Gene
Non-heme iron-containing dioxygenase that catalyzes the stereo-specific peroxidation of free and esterified polyunsaturated fatty acids generating a spectrum of bioactive lipid mediators. Mainly converts arachidonic acid to (12R)-hydroperoxyeicosatetraenoic acid/(12R)-HPETE and minor stereoisomers. 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. Therefore plays a crucial role in the synthesis of corneocytes lipid envelope and the establishment of the skin barrier to water loss. May also play a role in the regulation of the expression of airway mucins.