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

Autoria(s): 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.
Data(s)

01/10/2002
Resumo

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.
Identificador

http://eprints.qut.edu.au/87702/
Publicador

Elsevier
Relação

DOI:10.1086/343053

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.
Fonte

School of Biomedical Sciences; Institute of Health and Biomedical Innovation
Palavras-Chave #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
Tipo

Journal Article
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