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

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.

SUBMITTER: Williams CJ

PROVIDER: S-EPMC419998 | biostudies-literature | 2002 Oct

REPOSITORIES: biostudies-literature

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

Williams Charlene J CJ Zhang Yun Y Timms Andrew A Bonavita Gina G Caeiro Francisco F Broxholme John J Cuthbertson Jonathan J Jones Yvonne Y Marchegiani Raul R Reginato Antonio A Russell R Graham G RG Wordsworth B Paul BP Carr Andrew J AJ Brown Matthew A MA

American journal of human genetics 20020917 4

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. ...[more]

PMID: 12297989

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