genetics
Last reviewed 01/2018
The gene implicated in the pathogenesis of Wilson's disease is found at chromosome 13q14.3. Inheritance is autosomal recessive. Mutations causing Wilson's disease include point mutations and small deletions.
The gene product is predicted to be a member of the cation- transporting P-type ATPase. The N-terminal portion of the putative protein has several copies of a copper binding motif. The Wilson's disease gene product is expressed in:
- liver
- kidney
- placenta
Refs: 1) Bull, PC. et al. (1993). Nature Genet. 5, 327-37 2) Shelly, J & Monaco, AP. (1993). Nature Genet. 5, 317-8