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Article

Mutations in lipid transporter ABCA12 in harlequin ichthyosis and functional recovery by corrective gene transfer.

The Journal of clinical investigation - 1 Jul 2005

Akiyama Masashi, Sugiyama-Nakagiri Yoriko, Sakai Kaori, McMillan James R, Goto Maki, Arita Ken, Tsuji-Abe Yukiko, Tabata Nobuko, Matsuoka Kentaro, Sasaki Rikako, Sawamura Daisuke, Shimizu Hiroshi

Abstract excerpt

Harlequin ichthyosis (HI) is a devastating skin disorder with an unknown underlying cause. Abnormal keratinocyte lamellar granules (LGs) are a hallmark of HI skin. ABCA12 is a member of the ATP-binding cassette transporter family, and members of the ABCA subfamily are known to have closely related functions as lipid transporters. ABCA3 is involved in lipid secretion via LGs from alveolar type II cells, and...

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Share to ATP-Binding Cassette Transporters
Share to Biological Transport, Active

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

Share to Gene Transfer Techniques

Share to Ichthyosis, Lamellar

Share to Keratinocytes

Share to Lipid Metabolism, Inborn Errors

Share to Prenatal Diagnosis

Share to Sequence Homology, Amino Acid

Source

Open in PubMed Open full text

Identifiers

PMID: 16007253
DOI: 10.1172/JCI24834
PMCID: PMC1159149

Genes

ABCA12
ABCA3

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.

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