ALOX12B

ALOX12B, also known as arachidonate 12-lipoxygenase 2, is a human gene that encodes a protein belonging to the lipoxygenase family. Lipoxygenases are enzymes that catalyze the oxidation of polyunsaturated fatty acids. Specifically, ALOX12B is involved in the metabolism of arachidonic acid, a common omega-6 fatty acid. This process leads to the production of various lipid mediators, which play diverse roles in physiological and pathological processes.

The ALOX12B enzyme is primarily expressed in the skin, particularly in keratinocytes, and also in some other tissues like the adrenal gland. Its precise physiological functions are still under investigation, but it is thought to be involved in processes such as inflammation, wound healing, and epidermal differentiation. Dysregulation of ALOX12B activity has been implicated in certain skin conditions.

Mutations in the ALOX12B gene have been associated with a group of inherited skin disorders known as ichthyoses, specifically harlequin ichthyosis, a severe form of congenital ichthyosis characterized by a thickened, scaly epidermis. These mutations often lead to a loss of function of the ALOX12B enzyme, disrupting normal lipid metabolism in the skin and consequently affecting skin barrier formation and function. Research into ALOX12B continues to explore its broader roles in human health and disease.