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 G Russell; B Paul Wordsworth; Andrew J Carr; Matthew A Brown

doi:10.1086/343053

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.

Authors

Charlene J Williams¹, 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

Affiliation

¹ Thomas Jefferson University, Philadelphia, PA, USA.

PMID: 12297989
PMCID: PMC419998
DOI: 10.1086/343053

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.

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

Substances

ANKH protein, human
Membrane Proteins
Phosphate Transport Proteins
Calcium Pyrophosphate

Associated data

OMIM/118600
OMIM/123000