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

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

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  • 1Thomas Jefferson University, Philadelphia, PA, USA.

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.

PMID:
12297989
PMCID:
PMC419998
DOI:
10.1086/343053
[PubMed - indexed for MEDLINE]
Free PMC Article
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