Cookies on this website
We use cookies to ensure that we give you the best experience on our website. If you click 'Continue' we'll assume that you are happy to receive all cookies and you won't see this message again. Click 'Find out more' for information on how to change your cookie settings.

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

Am J Hum Genet

Publication Date

10/2002

Volume

71

Pages

985 - 991

Keywords

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