ABCC6 localizes to the mitochondria-associated membrane.
Martin, Lisa J , Lau, Edward , Singh, Harpreet , Vergnes, Laurent , Tarling, Elizabeth J , Mehrabian, Margarete , Mungrue, Imran , Xiao, Sheila , Shih, Diana , Castellani, Lawrence , Ping, Peipei , Reue, Karen , Stefani, Enrico , Drake, Thomas A , Bostrom, Kristina , Lusis, Aldons J
Publication Details
- Journal: Circ Res
- Volume: 111 (5 )
- Pages: 516-20
- Published: Aug 2012
- Type: Journal Article
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.
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Added: January 15, 2026 | Updated: January 15, 2026