Autosomal dominant familial calcium pyrophosphate dihydrate deposition disease is caused by mutation in the transmembrane protein ANKH.
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- Record sourced from PubMed, PMID 12297989.
- Also identified by PMC identifier 419998.
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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.
Medical subject headings
- Calcium Pyrophosphate
- Chondrocalcinosis
- Membrane Proteins
- Metabolic Diseases