ALOXE3: Introduces molecular oxygen into polyunsaturated fatty acids. Exact substrate is not known. Defects in ALOXE3 are a cause of non-bullous congenital ichthyosiform erythroderma (NCIE). NCIE is a non- bullous ichthyosis, a skin disorder characterized by abnormal cornification of the epidermis. Most affected individuals are born with a tight, shiny, translucent covering called collodion membrane. The collodion membrane subsequently evolves into generalized scaling and intense redness of the skin. Clinical features are milder than in lamellar ichthyoses and demonstrate a greater variability in the intensity of erythema, size and type of scales. In contrast to lamellar ichthyoses, scales are usually white, fine and powdery, and palms and soles are severely affected. Patients suffer from palmoplantar keratoderma, often with painful fissures, digital contractures, and loss of pulp volume. Belongs to the lipoxygenase family. 2 isoforms of the human protein are produced by alternative splicing.
Protein type: EC 4.2.1.152; Oxidoreductase; EC 5.4.4.7
Chromosomal Location of Human Ortholog: 17p13.1
Molecular Function: hepoxilin A3 synthase activity; oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen; protein binding
Biological Process: arachidonic acid metabolic process; ceramide biosynthetic process; fat cell differentiation; hepoxilin biosynthetic process; linoleic acid metabolic process; lipoxygenase pathway; sensory perception of pain; sphingolipid metabolic process
Disease: Ichthyosis, Congenital, Autosomal Recessive 2; Ichthyosis, Congenital, Autosomal Recessive 3
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