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Article

ABCA12 maintains the epidermal lipid permeability barrier by facilitating formation of ceramide linoleic esters.

The Journal of biological chemistry - 26 Dec 2008

Zuo Ying, Zhuang Debbie Z, Han Rong, Isaac Giorgis, Tobin Jennifer J, McKee Mary, Welti Ruth, Brissette Janice L, Fitzgerald Michael L, Freeman Mason W

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 18957418
DOI: 10.1074/jbc.M807377200
PMCID: PMC2605993

Genes

ABCA12

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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ABCA12 maintains the epidermal lipid permeability barrier by facilitating formation of ceramide linoleic esters.PMID 18957418Read ↗

A Mouse Model of Harlequin Ichthyosis Delineates a Key Role for Abca12 in Lipid HomeostasisSemantic proximity Read ↗

The roles of ABCA12 in epidermal lipid barrier formation and keratinocyte differentiation.Semantic proximity Read ↗

Defects in Stratum Corneum Desquamation Are the Predominant Effect of Impaired ABCA12 Function in a Novel Mouse Model of Harlequin Ichthyosis.Semantic proximity Read ↗

Harlequin ichthyosis model mouse reveals alveolar collapse and severe fetal skin barrier defectsSemantic proximity Read ↗

Premature terminal differentiation and a reduction in specific proteases associated with loss of ABCA12 in Harlequin ichthyosis.Semantic proximity Read ↗

Harlequin ichthyosis: ABCA12 mutations underlie defective lipid transport, reduced protease regulation and skin-barrier dysfunctionSemantic proximity Read ↗

Harlequin ichthyosis unmasked: a defect of lipid transport.Semantic proximity Read ↗

Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis.Semantic proximity Read ↗

Mutations in lipid transporter ABCA12 in harlequin ichthyosis and functional recovery by corrective gene transfer.Semantic proximity Read ↗

Acylceramide is a key player in skin barrier function: insight into the molecular mechanisms of skin barrier formation and ichthyosis pathogenesisSemantic proximity Read ↗

ABCA12 mutations and autosomal recessive congenital ichthyosis: a review of genotype/phenotype correlations and of pathogenetic concepts.Semantic proximity Read ↗

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