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.
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.
Impact and interest:
Citation counts are sourced monthly from and citation databases.
These databases contain citations from different subsets of available publications and different time periods and thus the citation count from each is usually different. Some works are not in either database and no count is displayed. Scopus includes citations from articles published in 1996 onwards, and Web of Science® generally from 1980 onwards.
Citations counts from theindexing service can be viewed at the linked Google Scholar™ search.
|Item Type:||Journal Article|
|Additional Information:||No file attached.|
|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|
|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|
Repository Staff Only: item control page