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Commentary

The ank gene story

Lawrence M Ryan

Author Affiliations

Department of Medicine, Medical College of Wisconsin, Milwaukee, Wisconsin, USA

Arthritis Res 2001, 3:77-79  doi:10.1186/ar143

Published: 19 December 2000

Abstract

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.

Keywords:
ank/ank mice; apatite; basic calcium phosphate; calcium pyrophosphate dihydrate; inorganic pyrophosphate; pathologic mineralization