title: Autosomal dominant familial calcium pyrophosphate dihydrate deposition disease is caused by mutation in the transmembrane protein ANKH.
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.
authors.affiliation: Thomas Jefferson University, Philadelphia, PA, USA.
authors.forename: Charlene J
authors.initials: CJ
authors.lastname: Williams
authors.forename: Yun
authors.initials: Y
authors.lastname: Zhang
authors.forename: Andrew
authors.initials: A
authors.lastname: Timms
authors.forename: Gina
authors.initials: G
authors.lastname: Bonavita
authors.forename: Francisco
authors.initials: F
authors.lastname: Caeiro
authors.forename: John
authors.initials: J
authors.lastname: Broxholme
authors.forename: Jonathan
authors.initials: J
authors.lastname: Cuthbertson
authors.forename: Yvonne
authors.initials: Y
authors.lastname: Jones
authors.forename: Raul
authors.initials: R
authors.lastname: Marchegiani
authors.forename: Antonio
authors.initials: A
authors.lastname: Reginato
authors.forename: R Graham G
authors.initials: RG
authors.lastname: Russell
authors.forename: B Paul
authors.initials: BP
authors.lastname: Wordsworth
authors.forename: Andrew J
authors.initials: AJ
authors.lastname: Carr
authors.forename: Matthew A
authors.initials: MA
authors.lastname: Brown
mesh_terms: D000595:Amino Acid Sequence; D002131:Calcium Pyrophosphate / Q000378:metabolism*; D002805:Chondrocalcinosis / Q000235:genetics* / Q000378:metabolism; D002895:Chromosomes, Human, Pair 5; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D008659:Metabolic Diseases / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D028061:Phosphate Transport Proteins; D017386:Sequence Homology, Amino Acid
chemical_list: C498770:ANKH protein, human; D008565:Membrane Proteins; D028061:Phosphate Transport Proteins; D002131:Calcium Pyrophosphate