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Updated: May 20, 2026

An Improved Method to Isolate Mitochondrial Contact Sites
Published on: June 16, 2023
ABCC6 localizes to the mitochondria-associated membrane
Lisa J Martin1, Edward Lau, Harpreet Singh
1Department of Medicine, Human Genetics, Microbiology, Immunology and Molecular Genetics, 3730 MRL UCLA, Los Angeles, CA 90095-1679, USA.
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.
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