Mutations and Protein Deficiencies

Question 1

Mutations and Protein Deficiencies associated with Disease

Answer 1

ATP7B = Dysfunctional protein assoc with Wilson’s disease

JAK-STAT = Mutation assoc w Polycythaemia Rubra Vera

Glucuronyl Transferase Deficiency = Gilbert’s disease

HFE gene mutation = mutation assoc w most common form of hereditary haemochromatosis

alpha-1 antitrypsin deficiency = a protease that is assoc w early onset emphysema and liver cirrhosis