Harlequin ichthyosis is a congenital scaling syndrome of the skin in which affected infants
have epidermal hyperkeratosis and a defective permeability barrier. Mutations in the gene
encoding a member of the ABCA transporter family, ABCA12, have been linked to harlequin
ichthyosis, but the molecular function of the protein is unknown. To investigate the activity of
ABCA12, we generated Abca12 null mice and analyzed the impact on skin function and lipid
content. Abca12-/-mice are born with a thickened epidermis and die shortly after birth, as …