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Autosomal Dominant Familial Calcium Pyrophosphate Dihydrate Deposition Disease is Caused by Mutation in the Transmembrane Protein ANKH

Overview
Journal Am J Hum Genet
Publisher Cell Press
Specialty Genetics
Date 2002 Sep 26
PMID 12297989
Citations 37
Authors
Charlene J Williams
Yun Zhang
Andrew Timms
Gina Bonavita
Francisco Caeiro
John Broxholme
Jonathan Cuthbertson
Yvonne Jones
Raul Marchegiani
Antonio Reginato
R Graham G Russell
B Paul Wordsworth
Andrew J Carr
Matthew A Brown
Affiliations
Soon will be listed here.
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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