Article
The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene.
Nature genetics - 1 Dec 1993
Bull P C, Thomas G R, Rommens J M, Forbes J R, Cox D W
Abstract excerpt
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 c...
Topics
- Adenosine Triphosphatases
- Amino Acid Sequence
- Base Sequence
- Blotting, Northern
- Cation Transport Proteins
- Cell Line
- Chromosomes, Human, Pair 13
- Copper
- Copper-Transporting ATPases
- Gene Expression
- Hepatolenticular Degeneration