2.4.1.152 | blood plasma |
in individuals with plasma fucosyltransferase deficiency from Indonesia, either a missense mutation, G739A, in the catalytic domain, or a nonsense mutation, C945A, truncating the COOH terminus of the enzyme, leads to the total loss of the enzymatic activity of FUT6. 9% of individuals on the island of Java lack the plasma type enzyme. Activity is elevated in patients with a variety of malignant disorders, including liver cancer, elevated in heavy alcohol drinkers. Reduction of enzyme level in patients with schizophrenia |
639521 |