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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
The Wilson disease gene is a putative copper transporting P-type ATPase similar to the menkes gene
Nature Genetics, Volume 5, No. 4, Year 1993
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Description
Wilson disease (WD) is an autosomal recessive disorder of copper transport, resulting in copper accumulation and toxicity to the liver and brain. The gene (WD) has been mapped to chromosome 13 q14.3. On yeast artificial chromosomes from this region we have identified a sequence, similar to that coding for the proposed copper binding regions of the putative ATPase gene (MNK) defective in Menkes disease. We show that this sequence forms part of a P–type ATPase gene (referred to here as Wc1) that is very similar to MNK, with six putative metal binding regions similar to those found in prokaryotic heavy metal transporters. The gene, expressed in liver and kidney, lies within a 300 kb region likely to include the WD locus. Two WD patients were found to be homozygous for a seven base deletion within the coding region of Wc1. Wc1 is proposed as the gene for WD. © 1993 Nature Publishing Group.
Authors & Co-Authors
Bull, Peter C.
Canada, Toronto
Hospital for Sick Children University of Toronto
Cox, Diane Wilson
Canada, Toronto
Hospital for Sick Children University of Toronto
Canada, Toronto
University of Toronto
Statistics
Citations: 1,878
Authors: 2
Affiliations: 2
Identifiers
Doi:
10.1038/ng1293-327
ISSN:
10614036
Research Areas
Genetics And Genomics