The ank gene story
Department of Medicine, Medical College of Wisconsin, Milwaukee, Wisconsin, USA
Arthritis Res 2001, 3:77-79 doi:10.1186/ar143Published: 19 December 2000
The underlying molecular defect resulting in the abnormal calcification observed in ank/ank mice has been identified. The responsible nonsense mutation affects the protein product of ank, resulting in diminished production of extracellular inorganic pyrophosphate, an important inhibitor of nucleation and of the growth of apatite crystals. The ank gene product is one of several cell membrane proteins, including ectonucleoside triphosphate pyrophosphohydrolase enzymes and alkaline phosphatase, that regulate extracellular inorganic pyrophosphate levels and thereby regulate mineralization.