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• W2045954756 abstract "ABCA12 is a member of the large superfamily of ATP-binding cassette (ABC) transporters, which bind and hydrolyze ATP to transport various molecules across limiting membranes or into vesicles. The ABCA subfamily members are thought to be lipid transporters. ABCA12 is a keratinocyte transmembrane lipid transporter protein associated with the transport of lipids in lamellar granules to the apical surface of granular layer keratinocytes. Extracellular lipids, including ceramide, are thought to be essential for skin barrier function. ABCA12 mutations are known to underlie the three main types of autosomal recessive congenital ichthyoses: harlequin ichthyosis, lamellar ichthyosis and congenital ichthyosiform erythroderma. ABCA12 mutations lead to defective lipid transport via lamellar granules in the keratinocytes, resulting in malformation of the epidermal lipid barrier and ichthyosis phenotypes. Studies of ABCA12-deficient model mice indicate that lipid transport by ABCA12 is also indispensable for intact differentiation of keratinocytes." @default.
• W2045954756 created "2016-06-24" @default.
• W2045954756 creator A5073117349 @default.
• W2045954756 date "2011-04-01" @default.
• W2045954756 modified "2023-09-30" @default.
• W2045954756 title "The roles of ABCA12 in keratinocyte differentiation and lipid barrier formation in the epidermis" @default.
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• W2045954756 doi "https://doi.org/10.4161/derm.3.2.15136" @default.
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