ABCA12

ABCA12 is a gene that in humans is responsible for the production of the ATP-binding cassette sub-family A member 12 (ABCA12) protein. This protein is a crucial component in the development and maintenance of the skin, specifically the epidermis.

Function

The ABCA12 protein is a member of the ATP-binding cassette (ABC) transporter superfamily. These proteins transport various molecules across the intra and extra-cellular membranes. ABCA12 is a transmembrane protein that plays a critical role in the transport of lipids and the formation of the lipid barrier in the skin. This barrier is essential for protecting the body from dehydration and infection.

Clinical significance

Mutations in the ABCA12 gene are associated with Harlequin-type ichthyosis and Lamellar ichthyosis, two severe skin disorders. These conditions are characterized by a thickening of the skin and an abnormal scaling, respectively.

Harlequin-type ichthyosis

Harlequin-type ichthyosis is a severe genetic disorder that mainly affects the skin. Infants with this condition are born with very hard, thick skin covering most of their bodies. Mutations in the ABCA12 gene prevent the normal transport of lipids, leading to the formation of an abnormal skin barrier.

Lamellar ichthyosis

Lamellar ichthyosis is a rare genetic condition that causes the skin to scale and shed. Mutations in the ABCA12 gene disrupt the normal development of the epidermis, leading to the symptoms of this disorder.

See also

• ATP-binding cassette transporter
• Harlequin-type ichthyosis
• Lamellar ichthyosis