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

Autor:	Y Jones, J Broxholme, Youming Zhang, F Caeiro, Andrew E. Timms, J Cuthbertson, Roslin Russell, R Marchegiani, Charlene J. Williams, Gina Bonavita, Matthew A. Brown, Antonio J. Reginato, Andrew Carr, B P Wordsworth
Rok vydání:	2002
Předmět:	musculoskeletal diseases Molecular Sequence Data Chondrocalcinosis Biology medicine.disease_cause Calcium Pyrophosphate Pathogenesis 03 medical and health sciences chemistry.chemical_compound 0302 clinical medicine Metabolic Diseases Report medicine Extracellular Genetics Humans Phosphate Transport Proteins Genetics(clinical) Amino Acid Sequence Peptide sequence Genetics (clinical) 030304 developmental biology 030203 arthritis & rheumatology 0303 health sciences Mutation Sequence Homology Amino Acid Calcium pyrophosphate Membrane Proteins medicine.disease Transmembrane protein Pedigree chemistry Membrane protein Chromosomes Human Pair 5
Zdroj:	American journal of human genetics. 71(4)
ISSN:	0002-9297
Popis:	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.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a22a3eb452d1fed833fc470c057041e4 https://pubmed.ncbi.nlm.nih.gov/12297989 Zobrazit plný text záznamu