Anti-ALOXE3 antibody (ab73091)

Function

Introduces molecular oxygen into polyunsaturated fatty acids. Exact substrate is not known.

Tissue specificity

Predominantly expressed in skin.

Pathway

Lipid metabolism; leukotriene D4 biosynthesis.

Involvement in disease

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.

Sequence similarities

Belongs to the lipoxygenase family.
Contains 1 lipoxygenase domain.
Contains 1 PLAT domain.

Alternative names

Database links