ATP binding cassette subfamily A member 12 (ABCA12)

ABCA12 is a member of the ATP-binding cassette (ABC) transporter superfamily and functions as a transmembrane lipid transporter. It is predominantly expressed in epidermal keratinocytes, where it moves lipids, such as glucosylceramides, from lamellar granules (LGs) to the outer layers of the skin, enabling formation of the lipid lamellae crucial for skin barrier function. Mutations in the ABCA12 gene result in severe forms of congenital ichthyoses due to defective lipid transport and skin barrier formation. ABCA12 also plays roles in keratinocyte differentiation, cholesterol efflux, and possibly insulin secretion.

Other names

ABCA12ATP-binding cassette transporter A12ATP binding cassette subfamily A member 12

Drugs (if developed) would likely act by modulating lipid transport or keratinocyte function; mechanistic modulation may involve correction or enhancement of lipid delivery to epidermis.