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1: Arthritis Res. 2001;3(2):77-9. Epub 2000 Dec 19.Click here to read Click here to read Links

The ank gene story.

Ryan LM.

Department of Medicine, Medical College of Wisconsin, Milwaukee, Wisconsin 53226, USA. lryan@mcw.edu

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.

PMID: 11178113 [PubMed - indexed for MEDLINE]

PMCID: PMC128882

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