| First Author | Martin LJ | Year | 2012 |
| Journal | Circ Res | Volume | 111 |
| Issue | 5 | Pages | 516-20 |
| PubMed ID | 22811557 | Mgi Jnum | J:212643 |
| Mgi Id | MGI:5581912 | Doi | 10.1161/CIRCRESAHA.112.276667 |
| Citation | Martin LJ, et al. (2012) ABCC6 localizes to the mitochondria-associated membrane. Circ Res 111(5):516-20 |
| abstractText | 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. |
