Fucosyltransferase 1 (FUT1)

FUT1 is a Golgi stack membrane protein that is involved in the creation of a precursor of the H antigen, which is required for the final step in the soluble A and B antigen synthesis pathway. This gene is one of two encoding the galactoside 2-L-fucosyltransferase enzyme. Mutations in this gene are a cause of the H-Bombay blood group. An analysis of the results of ABO typing at transfusion centers on the island confirmed their prediction; 42 persons were found to be lacking H-antigen on red cells with anti-H in their serum. A, B, and AB Bombay subjects had small but detectable amounts of A and/or B antigens on erythrocytes. All H-deficient persons were nonsecretors, and one-third were Lewis negative. Of 108 unaffected persons in 14 Bombay pedigrees, 53 (49%) were se/se, suggesting that the Bombay probands have an se/se genotype.