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Article

Identification of a DNA methylation-dependent activator sequence in the pseudoxanthoma elasticum gene, ABCC6.

The Journal of biological chemistry - 13 May 2005

Arányi Tamás, Ratajewski Marcin, Bardóczy Viola, Pulaski Lukasz, Bors András, Tordai Attila, Váradi András

Abstract excerpt

ABCC6 encodes MRP6, a member of the ABC protein family with an unknown physiological role. The human ABCC6 and its two pseudogenes share 99% identical DNA sequence. Loss-of-function mutations of ABCC6 are associated with the development of pseudoxanthoma elasticum (PXE), a recessive hereditary di...

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Identifiers

PMID: 15760889
DOI: 10.1074/jbc.M501139200

Genes

ABCC6

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-15760889-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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Identification of a DNA methylation-dependent activator sequence in the pseudoxanthoma elasticum gene, ABCC6.PMID 15760889Read ↗

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Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticum.Semantic proximity Read ↗

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