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Updated: May 20, 2026
07:55
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.
Circulation Research
|July 20, 2012
Summary
Mutations in ATP-binding cassette, subfamily C, member 6 (ABCC6) cause pseudoxanthoma elasticum. This study finds ABCC6 is intracellular and located in mitochondria-associated membranes, impacting mitochondrial function.
Area of Science:
- Molecular Biology
- Genetics
- Cell Biology
Background:
- Mutations in the ATP-binding cassette, subfamily C, member 6 (ABCC6) transporter are linked to pseudoxanthoma elasticum.
- ABCC6 was previously localized to the plasma membrane of liver and kidney cells.
Purpose of the Study:
- To investigate the subcellular localization of ABCC6.
- To determine if ABCC6 associates with mitochondria, given evidence of its role in mitochondrial gene expression.
Main Methods:
- Subcellular fractionation to isolate mitochondrial components.
- Mitochondria-associated membrane purification.
- Cell-surface biotinylation in hepatocytes.
- Analysis of Abcc6-knockout mouse models.
Main Results:
- ABCC6 was detected in crude mitochondrial fractions and purified mitochondria-associated membranes.
- Cell-surface biotinylation confirmed ABCC6 is intracellular, not on the plasma membrane.
- Abcc6-knockout mice exhibited mitochondrial abnormalities and reduced respiratory capacity.
Conclusions:
- ABCC6 localizes to the mitochondria-associated membrane.
- This localization suggests a novel role for ABCC6 in mitochondrial function.
- Findings have implications for understanding pseudoxanthoma elasticum and ABCC6's mechanism of action.
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