DISEASES

Disease-gene associations mined from literature

Literature associating ALOX12B and autosomal recessive congenital ichthyosis

ALOX12B [ENSP00000315167]

Arachidonate 12-lipoxygenase, 12R type; 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; Arachidonate lipoxygenases

Synonyms:  ALOX12B,  ALOX12Bp,  hALOX12B,  O75342,  O75342p ...

Linkouts:  STRING  Pharos  UniProt  OMIM