Autosomal dominant familial calcium pyrophosphate dihydrate deposition disease is caused by mutation in the transmembrane protein ANKH.

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ID: 4997
2002
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Abstract
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.
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williams2002autosomalamerican Use this key to autocite in the manuscript while using SciMatic Manuscript Manager or Thesis Manager
Authors Williams, Charlene J;Zhang, Yun;Timms, Andrew;Bonavita, Gina;Caeiro, Francisco;Broxholme, John;Cuthbertson, Jonathan;Jones, Yvonne;Marchegiani, Raul;Reginato, Antonio;Russell, R Graham G;Wordsworth, B Paul;Carr, Andrew J;Brown, Matthew A;
Journal American journal of human genetics
Year 2002
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