ALOXE3 Antibody – Rabbit Polyclonal

This gene is a member of the lipoxygenase family, which are catabolized by arachidonic acid-derived compounds. The encoded enzyme is a hydroperoxide isomerase that synthesizes a unique type of epoxy alcohol (8R-hydroxy-11R,12R-epoxyeicosa-5Z,9E,14Z-trienoic acid) from 12R-hydroperoxyeicosatetraenoic acid (12R-HPETE). This epoxy alcohol can activate the the nuclear receptor peroxisome proliferator-activated receptor alpha (PPARalpha), which is implicated in epidermal differentiation. Loss of function of the enzyme encoded by this gene results in ichthyosis, implicating the function of this gene in the differentiation of human skin. This gene is part of a cluster of lipoxygenase genes on 17p13.1. Mutations in this gene result in nonbullous congenital ichthyosiform erythroderma (NCIE). Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]

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; EC 5.4.4.7; Oxidoreductase

Chromosomal Location of Human Ortholog: 17p13.1

Cellular Component: cytoplasm

Molecular Function: oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen; hepoxilin A3 synthase activity; protein binding; iron ion binding; lyase activity

Biological Process: fat cell differentiation; sphingolipid metabolic process; lipoxygenase pathway; ceramide biosynthetic process; arachidonic acid metabolic process; linoleic acid metabolic process; hepoxilin biosynthetic process; sensory perception of pain

Disease: Ichthyosis, Congenital, Autosomal Recessive 3; Ichthyosis, Congenital, Autosomal Recessive 2