功能Introduces molecular oxygen into polyunsaturated fatty acids. Exact substrate is not known.
组织特异性Predominantly expressed in skin.
通路Lipid metabolism; leukotriene D4 biosynthesis.
疾病相关Defects in ALOXE3 are a cause of non-bullous congenital ichthyosiform erythroderma (NCIE) [MIM:242100]. 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.
序列相似性Belongs to the lipoxygenase family. Contains 1 lipoxygenase domain. Contains 1 PLAT domain.