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Article

Loss of ATP-dependent transport activity in pseudoxanthoma elasticum-associated mutants of human ABCC6 (MRP6).

The Journal of biological chemistry - 10 May 2002

Iliás Attila, Urbán Zsolt, Seidl Thomas L, Le Saux Olivier, Sinkó Emese, Boyd Charles D, Sarkadi Balázs, Váradi András

Abstract excerpt

Mutations in the ABCC6 (MRP6) gene cause pseudoxanthoma elasticum (PXE), a rare heritable disorder resulting in the calcification of elastic fibers. In the present study a cDNA encoding a full-length normal variant of ABCC6 was amplified from a human kidney cDNA library, and the protein was expre...

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Source

Identifiers

PMID: 11880368
DOI: 10.1074/jbc.M110918200

Genes

ABCC6
ABCC1
ABCC2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-11880368-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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Loss of ATP-dependent transport activity in pseudoxanthoma elasticum-associated mutants of human ABCC6 (MRP6).PMID 11880368Read ↗

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