Wilson disease gene

Details Wilson disease gene Wilson disease gene

C - Chemistry, Metallurgy

12

N

C12N 15/55 (2006.01) A61K 31/70 (2006.01) A61K 48/00 (2006.01) C07H 21/00 (2006.01) C12N 9/14 (2006.01) C12N 15/12 (2006.01) C12Q 1/68 (2006.01) C12P 19/34 (2006.01)

Patent

CA 2108927

Wilson disease (hepatolenticular degeneration) is an autosomal recessive disorder of copper transport, resulting in copper accumulation and toxicity to the liver and brain. The gene (locus WND) has been mapped to chromosome 13 band q14.3. On three overlapping yeast artificial chromosomes (YACs) from this region, a sequence similar to the proposed copper binding motifs of the putative ATPase (MNK) defective in Menkes disease was identified. It was shown that this sequence forms part of a P-type ATPase gene (Wc1) that is very similar to MNK, with at least six putative metal binding domains homologous to those found in prokaryotic heavy metal transporters. This gene lies within a 300 kb region that has been identified as a likely location for WND. The gene is expressed in the liver and kidney and is a candidate for Wilson disease.

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