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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

DOI

10.1086/343053

Type

Journal article

Journal

American Journal of Human Genetics

Publication Date

10/2002

Volume

71

Pages

985 - 991

Addresses

Thomas Jefferson University, Philadelphia, PA, USA.

Keywords

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