ALOX12B

This gene encodes an enzyme involved in the converstion of arachidonic acid to 12R-hydroxyeicosatetraenoic acid. Mutations in this gene are associated with nonbullous congenital ichthyosiform erythroderma. [provided by RefSeq]

arachidonate 12-lipoxygenase, 12R type

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).

Arachidonic acid metabolic process Source: UniProtKB
Ceramide biosynthetic process Source: UniProtKB
Establishment of skin barrier Source: UniProtKB
Hepoxilin biosynthetic process Source: UniProtKB
Linoleic acid metabolic process Source: UniProtKB
Lipid oxidation Source: GO_Central
Lipoxygenase pathway Source: UniProtKB
Positive regulation of gene expression Source: UniProtKB
Positive regulation of MAPK cascade Source: UniProtKB
Positive regulation of mucus secretion Source: UniProtKB
Protein lipidation Source: UniProtKB
Sphingolipid metabolic process Source: UniProtKB

Cytoplasm; Perinuclear region

Ichthyosis, congenital, autosomal recessive 2 (ARCI2): A form of autosomal recessive congenital ichthyosis, a disorder of keratinization with abnormal differentiation and desquamation of the epidermis, resulting in abnormal skin scaling over the whole body. The main skin phenotypes are lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur. Lamellar ichthyosis is a condition often associated with an embedment in a collodion-like membrane at birth; skin scales later develop, covering the entire body surface. Non-bullous congenital ichthyosiform erythroderma characterized by fine whitish scaling on an erythrodermal background; larger brownish scales are present on the buttocks, neck and legs.