The roles of ABCA12 in keratinocyte differentiation and lipid barrier formation in the epidermis
Open Access
- 1 April 2011
- journal article
- Published by Taylor & Francis Ltd in Dermato-Endocrinology
- Vol. 3 (2), 107-112
- https://doi.org/10.4161/derm.3.2.15136
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.Keywords
This publication has 39 references indexed in Scilit:
- Self-Improvement of Keratinocyte Differentiation Defects During Skin Maturation in ABCA12-Deficient Harlequin Ichthyosis Model MiceThe American Journal of Pathology, 2010
- Ceramide Stimulates ABCA12 Expression via Peroxisome Proliferator-activated Receptor δ in Human KeratinocytesPublished by Elsevier BV ,2009
- Premature Terminal Differentiation and a Reduction in Specific Proteases Associated with Loss of ABCA12 in Harlequin IchthyosisThe American Journal of Pathology, 2009
- ABCA12 Maintains the Epidermal Lipid Permeability Barrier by Facilitating Formation of Ceramide Linoleic EstersPublished by Elsevier BV ,2008
- A Mouse Model of Harlequin Ichthyosis Delineates a Key Role for Abca12 in Lipid HomeostasisPLoS Genetics, 2008
- Localization of ABCA12 from Golgi apparatus to lamellar granules in human upper epidermal keratinocytesExperimental Dermatology, 2007
- Expression of the Keratinocyte Lipid Transporter ABCA12 in Developing and Reconstituted Human EpidermisThe American Journal of Pathology, 2007
- Transport of lipids from Golgi to plasma membrane is defective in Tangier disease patients and Abc1-deficient miceNature Genetics, 2000
- Regional difference in expression of characteristic abnormality of harlequin ichthyosis in affected fetusesPrenatal Diagnosis, 1998
- Heterogeneity in Harlequin Ichthyosis, an Inborn Error of Epidermal Keratinization: Variable Morphology and Structural Protein Expression and a Defect in Lamellar GranulesJournal of Investigative Dermatology, 1990