Which of the following gene is defective in Wilson's disease?
Menkes disease Wilson's disease Defective gene & its product ATP7A- ATPase (chromosome) ATP7B (Chromosome 13) Inheritance X-linked recessive Autosomal recessive Pathogenic defect Intestinal absorption of copper Defective biliary excretion of copper Accumulation of copper in liver Spillage into circulation due to liver damage Blood and urinary copper | | Clinical features Kinky hair and those of copper deficiency Kayse-Fleischer ring in cornea Liver cirrhosis Neurological manifestations NOTE: Menkesis caused by defective lysyl oxidase enzyme, This results from a deficiency of its co-factor i.e copper due to a defect in the ATP7A gene.
ATP7A
ATP7B
ATP7C
ATP7D
Miscellaneous