Recombinant Human ABCA12 protein

ABCA12 (ATP-binding cassette subfamily A member 12) is a transmembrane protein critical for lipid transport in keratinocytes, playing a pivotal role in maintaining skin barrier integrity. As a member of the ABC transporter superfamily, it utilizes ATP hydrolysis to facilitate the movement of lipids, particularly glucosylceramides and cholesterol, into lamellar bodies—specialized organelles responsible for secreting lipid layers that form the epidermal permeability barrier. Mutations in the ABCA12 gene are linked to severe autosomal recessive skin disorders, including harlequin ichthyosis (HI) and lamellar ichthyosis (LI), characterized by defective barrier function, thickened scales, and high neonatal mortality.

Recombinant ABCA12 protein is engineered to study its structure-function relationships, disease mechanisms, and therapeutic interventions. Produced via heterologous expression systems (e.g., mammalian cells, insect cells), it enables biochemical analyses such as lipid-binding assays, ATPase activity measurements, and structural studies using cryo-EM or X-ray crystallography. Researchers also use it to develop gene/cell therapies or small-molecule correctors for ABCA12-deficient conditions. Challenges in producing functional recombinant ABCA12 include its large size (~260 kDa), multiple transmembrane domains, and post-translational modification requirements. Recent advances in expression vector optimization and purification techniques have improved yields, aiding drug discovery and mechanistic studies. Its applications extend to modeling skin disorders in vitro and screening compounds to restore lipid transport in genetic keratinization diseases.