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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.
Publication status:
Published

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Publisher copy:
10.1086/343053

Authors


Williams, CJ More by this author
Bonavita, G More by this author
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Journal:
American journal of human genetics
Volume:
71
Issue:
4
Pages:
985-991
Publication date:
2002-10-05
DOI:
EISSN:
1537-6605
ISSN:
0002-9297
URN:
uuid:924f153e-348b-4e90-a761-f82e046d0b1c
Source identifiers:
103952
Local pid:
pubs:103952

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