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

Am J Hum Genet. 2002 Oct;71(4):985-91. doi: 10.1086/343053. Epub 2002 Sep 17.


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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

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


  • ANKH protein, human
  • Membrane Proteins
  • Phosphate Transport Proteins
  • Calcium Pyrophosphate

Associated data

  • OMIM/118600
  • OMIM/123000