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Article

A palindromic motif in the -2084 to -2078 upstream region is essential for ABCA12 promoter function in cultured human keratinocytes.

Scientific reports - 23 Oct 2014

Shimizu Yoshitaka, Ogawa Yasushi, Sugiura Kazumitsu, Takeda Jun-ichi, Sakai-Sawada Kaori, Yanagi Teruki, Kon Atsushi, Sawamura Daisuke, Shimizu Hiroshi, Akiyama Masashi

Abstract excerpt

ATP-binding cassette transporter family A member 12 (ABCA12) is a keratinocyte transmembrane lipid transporter that plays a critical role in preserving the skin permeability barrier. Biallelic loss of function of the ABCA12 gene is causative of some forms of recessive congenital ichthyosis, an intractable disease marked by dry, thickened and scaly skin on the whole body. Genetic diagnosis is essential, although...

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Share to ATP-Binding Cassette Transporters
Share to Ichthyosis, Lamellar

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 25338618
DOI: 10.1038/srep06737
PMCID: PMC4206840

Genes

ABCA12

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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A palindromic motif in the -2084 to -2078 upstream region is essential for ABCA12 promoter function in cultured human keratinocytes.PMID 25338618Read ↗

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