ATP-binding cassette sub-family A member 12 (ABCA12)

ATP-binding cassette sub-family A member 12 (ABCA12) is a transmembrane lipid transporter that is part of the ATP-binding cassette (ABC) transporter superfamily, specifically the ABC1 subfamily[1][2][3][4][7]. It is predominantly expressed in keratinocytes in the epidermis, where it transports glucosylceramides and ceramides into lamellar granules. This function is critical for forming the extracellular lipid layers of the stratum corneum and thereby maintaining the skin's barrier properties[1][2][3][4]. Mutations in ABCA12 cause severe inherited skin disorders such as harlequin ichthyosis and lamellar ichthyosis by disrupting epidermal lipid transport, leading to defective barrier formation and abnormal keratinization[1][2][3][5]. ABCA12 may also regulate cholesterol efflux, insulin secretion, and participate in surfactant biogenesis in other tissues[4][7]. At present, ABCA12 itself is not a direct drug target, but its loss-of-function mutations are significant biomarkers for genetic diagnosis and prognosis in ichthyosis syndromes.

Other names

Glucosylceramide transporter ABCA12ABC12ATP-binding cassette 12DKFZP434G232LI2ATP-binding cassette sub-family A member 12ATP-binding cassette transporter 12ARCI4AARCI4BICR2BATP-binding cassette, sub-family A (ABC1), member 12

Not applicable due to lack of known interacting drugs. In concept, therapeutic approaches could target enhancement or correction of defective lipid transport.