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Familial autosomal dominant calcium pyrophosphate dihydrate (CPPD) chondrocalcinosis has previously been mapped to chromosome 5p15. We have identified a mutation in the ANKH gene that segregates with the disease in a family with this condition. ANKH encodes a putative transmembrane inorganic pyrophosphate (PPi) transport channel. We postulate that loss of function of ANKH causes elevated extracellular PPi levels, predisposing to CPPD crystal deposition.

Original publication




Journal article


Am J Hum Genet

Publication Date





985 - 991


Amino Acid Sequence, Calcium Pyrophosphate, Chondrocalcinosis, Chromosomes, Human, Pair 5, Humans, Membrane Proteins, Metabolic Diseases, Molecular Sequence Data, Mutation, Pedigree, Phosphate Transport Proteins, Sequence Homology, Amino Acid