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Circ Res. 2012 Aug 17;111(5):516-20. doi: 10.1161/CIRCRESAHA.112.276667. Epub 2012 Jul 17.

ABCC6 localizes to the mitochondria-associated membrane.

Author information

  • 1Department of Medicine, Human Genetics, Microbiology, Immunology and Molecular Genetics, 3730 MRL UCLA, Los Angeles, CA 90095-1679, USA.

Abstract

RATIONALE:

Mutations of the orphan transporter ABCC6 (ATP-binding cassette, subfamily C, member 6) cause the connective tissue disorder pseudoxanthoma elasticum. ABCC6 was thought to be located on the plasma membrane of liver and kidney cells.

OBJECTIVE:

Mouse systems genetics and bioinformatics suggested that ABCC6 deficiency affects mitochondrial gene expression. We therefore tested whether ABCC6 associates with mitochondria.

METHODS AND RESULTS:

We found ABCC6 in crude mitochondrial fractions and subsequently pinpointed its localization to the purified mitochondria-associated membrane fraction. Cell-surface biotinylation in hepatocytes confirmed that ABCC6 is intracellular. Abcc6-knockout mice demonstrated mitochondrial abnormalities and decreased respiration reserve capacity.

CONCLUSIONS:

Our finding that ABCC6 localizes to the mitochondria-associated membrane has implications for its mechanism of action in normal and diseased states.

Comment in

  • Is ABCC6 a genuine mitochondrial protein? [BMC Res Notes. 2013]
PMID:
22811557
[PubMed - indexed for MEDLINE]
PMCID:
PMC3540978
Free PMC Article

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