ALOX12B

Enzyme encoded by the ALOX12B gene

ALOX12B is an enzyme that in humans is encoded by the ALOX12B gene. This enzyme is a member of the lipoxygenase family, which is involved in the metabolism of polyunsaturated fatty acids to produce bioactive lipid mediators.

Function

ALOX12B is primarily expressed in the epidermis and plays a crucial role in the formation of the skin barrier. It catalyzes the oxygenation of arachidonic acid and other polyunsaturated fatty acids to produce hydroperoxyeicosatetraenoic acids (HPETEs), which are further converted into hydroxyeicosatetraenoic acids (HETEs). These metabolites are involved in the regulation of inflammation, cell proliferation, and differentiation.

Clinical significance

Mutations in the ALOX12B gene have been associated with a rare genetic disorder known as autosomal recessive congenital ichthyosis (ARCI). This condition is characterized by abnormal skin scaling over the entire body due to defects in the skin barrier function. The ALOX12B mutations lead to a deficiency in the production of specific lipid mediators necessary for normal skin barrier formation.

Pathway

ALOX12B is part of the lipoxygenase pathway, which is one of the major pathways for the metabolism of arachidonic acid. This pathway involves the conversion of arachidonic acid into various eicosanoids, which are signaling molecules that exert complex control over many bodily systems, including the immune system.

Related pages

• Lipoxygenase
• Arachidonic acid
• Eicosanoid
• Autosomal recessive congenital ichthyosis