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

Charlene J. Williams, Yun Zhang, Andrew Timms, Gina Bonavita, Francisco Caeiro, John Broxholme, Jonathan Cuthbertson, Yvonne Jones, Raul Marchegiani, Antonio Reginato, R. Graham Russell, B. Paul Wordsworth, Andrew J. Carr, Matthew A. Brown

Research output: Contribution to journalArticlepeer-review

93 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)985-991
Number of pages7
JournalAmerican Journal of Human Genetics
Volume71
Issue number4
DOIs
StatePublished - 2002

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

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