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

Williams, C. J., Zhang, Y., Timms, A., Bonavita, G., Caeiro, F., Broxholme, J., Cuthbertson, J., Jones, Y., Marchegiani, R., Reginato, A., Graham Russell, R., Wordsworth, B. P., Carr, A. J., & Brown, Matthew A. (2002) Autosomal dominant familial calcium pyrophosphate dihydrate deposition disease is caused by mutation in the transmembrane protein ANKH. American Journal of Human Genetics, 71(4), pp. 985-991.

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Abstract

Familial autosomal dominant calcium pyrophosphate dihydrate (CPPD) chondrocalcinosis has previously been mapped to chromosome 5pl5. 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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ID Code: 87702
Item Type: Journal Article
Refereed: Yes
Additional Information: No file attached.
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Keywords: ANKH protein, human, calcium pyrophosphate, membrane protein, phosphate transporter, amino acid sequence, article, chondrocalcinosis, chromosome 5, genetics, human, metabolic disorder, metabolism, molecular genetics, mutation, pedigree, sequence homology, Chromosomes, Human, Pair 5, Humans, Membrane Proteins, Metabolic Diseases, Molecular Sequence Data, Phosphate Transport Proteins, Sequence Homology, Amino Acid
DOI: 10.1086/343053
ISSN: 0002-9297
Divisions: Current > Schools > School of Biomedical Sciences
Current > Institutes > Institute of Health and Biomedical Innovation
Deposited On: 24 Sep 2015 02:05
Last Modified: 24 Sep 2015 02:05

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