Autosomal dominant familial calcium pyrophosphate dihydrate deposition disease is caused by mutation in the transmembrane protein ANKH.
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.
Williams
Charlene J
CJ
Thomas Jefferson University, Philadelphia, PA, USA.
Zhang
Yun
Y
Timms
Andrew
A
Bonavita
Gina
G
Caeiro
Francisco
F
Broxholme
John
J
Cuthbertson
Jonathan
J
Jones
Yvonne
Y
Marchegiani
Raul
R
Reginato
Antonio
A
Russell
R Graham G
RG
Wordsworth
B Paul
BP
Carr
Andrew J
AJ
Brown
Matthew A
MA
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
C498770:ANKH protein, human; D008565:Membrane Proteins; D028061:Phosphate Transport Proteins; D002131:Calcium Pyrophosphate