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PMID:10894769
| Citation |
Ho, AM, Johnson, MD and Kingsley, DM (2000) Role of the mouse ank gene in control of tissue calcification and arthritis. Science 289:265-70 |
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| Abstract |
Mutation at the mouse progressive ankylosis (ank) locus causes a generalized, progressive form of arthritis accompanied by mineral deposition, formation of bony outgrowths, and joint destruction. Here, we show that the ank locus encodes a multipass transmembrane protein (ANK) that is expressed in joints and other tissues and controls pyrophosphate levels in cultured cells. A highly conserved gene is present in humans and other vertebrates. These results identify ANK-mediated control of pyrophosphate levels as a possible mechanism regulating tissue calcification and susceptibility to arthritis in higher animals. |
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| Keywords |
Animals; Arthritis/genetics; Arthritis/metabolism; Arthritis/pathology; Base Sequence; Biological Transport; COS Cells; Calcinosis/genetics; Chromosome Mapping; Cloning, Molecular; DNA; Diphosphates/metabolism; Durapatite/metabolism; Gene Expression; Genetic Complementation Test; Humans; Membrane Proteins/genetics; Membrane Proteins/metabolism; Membrane Proteins/physiology; Mice; Mice, Transgenic; Molecular Sequence Data; Mutation; Phenotype; Phosphate Transport Proteins; Physical Chromosome Mapping; Sequence Homology, Nucleic Acid; Tissue Distribution |
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Significance
Annotations
| Gene product | Qualifier | GO ID | GO term name | Evidence Code | with/from | Aspect | Notes | Status |
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