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

Journal article

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: Williams, C; Zhang, Y; Timms, A; Bonavita, G; Caeiro, F

• Publication status: Published
• Journal: American journal of human genetics
• Volume: 71
• Issue: 4
• Pages: 985-991
• Publication date: 2002-10-01
• DOI: 10.1086/343053
• EISSN: 1537-6605
• ISSN: 0002-9297
• Language: English
• Keywords: Pedigree; Humans; Calcium Pyrophosphate; Chromosomes, Human, Pair 5; Amino Acid Sequence; Chondrocalcinosis; Sequence Homology, Amino Acid; Metabolic Diseases; Membrane Proteins; Phosphate Transport Proteins; Molecular Sequence Data; Mutation