ALOXE3
- ALOXE3
ALOXE3 is a gene that encodes the enzyme arachidonate lipoxygenase 3, which is involved in the metabolism of fatty acids. This enzyme is part of the lipoxygenase family, which plays a crucial role in the oxidation of fatty acids to produce signaling molecules that are important in various biological processes, including inflammation and skin barrier function.
Function[edit | edit source]
ALOXE3 is primarily expressed in the skin and is involved in the formation of the epidermal barrier. It acts as a hydroperoxide isomerase, converting hydroperoxides of fatty acids into epoxyalcohols. These products are essential for maintaining the integrity and function of the skin barrier, which protects the body from environmental insults and prevents water loss.
Clinical Significance[edit | edit source]
Mutations in the ALOXE3 gene have been associated with a rare genetic disorder known as Nonbullous congenital ichthyosiform erythroderma (NCIE), a form of autosomal recessive congenital ichthyosis. This condition is characterized by dry, scaly skin and redness, resulting from defects in the skin barrier function.
Pathway Involvement[edit | edit source]
ALOXE3 is part of the lipoxygenase pathway, which is involved in the metabolism of arachidonic acid, a polyunsaturated fatty acid. This pathway leads to the production of various bioactive lipid mediators, including leukotrienes and lipoxins, which are involved in inflammatory responses and immune regulation.
Research and Developments[edit | edit source]
Recent studies have focused on the role of ALOXE3 in skin diseases and its potential as a therapeutic target. Understanding the enzyme's function and regulation could lead to new treatments for skin disorders and conditions related to impaired barrier function.
Also see[edit | edit source]
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Contributors: Prab R. Tumpati, MD