Autosomal dominant familial calcium pyrophosphate dihydrate deposition disease is caused by mutation in the transmembrane protein ANKH
Williams CJ., Zhang Y., Timms A., Bonavita G., Caeiro F., Broxholme J., Cuthbertson J., Jones Y., Marchegiani R., Reginato A., Graham Russell R., Wordsworth BP., Carr AJ., Brown MA.
Familial autosomal dominant calcium pyrophosphate dihydrate (CPPD) chondrocalcinosis has previously been mapped to chromosome 5pl5. 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. © 2002 by The American Society of Human Genetics. All rights reserved.