The Lewis histo-blood group system comprises a set of fucosylated glycosphingolipids synthesized by exocrine epithelial cells and circulating in body fluids. These glycosphingolipids play essential roles in embryogenesis, tissue differentiation, tumor metastasis, inflammation, and bacterial adhesion. They are secondarily absorbed onto red blood cells, giving rise to the Lewis phenotype.
This gene is a member of the fucosyltransferase family, which catalyzes the addition of fucose to precursor polysaccharides during the final step of Lewis antigen biosynthesis. It encodes an enzyme with both alpha(1,3)-fucosyltransferase and alpha(1,4)-fucosyltransferase activities. Mutations in this gene are responsible for most Lewis antigen-negative phenotypes. Multiple alternatively spliced variants encoding the same protein have been identified for this gene.[5]
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Elmgren A, Börjeson C, Svensson L, Rydberg L, Larson G (1996). "DNA sequencing and screening for point mutations in the human Lewis (FUT3) gene enables molecular genotyping of the human Lewis blood group system". Vox Sanguinis. 70 (2): 97–103. doi:10.1111/j.1423-0410.1996.tb01300.x. PMID8801770. S2CID42984604.
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Grahn A, Elmgren A, Aberg L, Svensson L, Jansson PA, Lönnroth P, Larson G (Oct 2001). "Determination of Lewis FUT3 gene mutations by PCR using sequence-specific primers enables efficient genotyping of clinical samples". Human Mutation. 18 (4): 358–9. doi:10.1002/humu.1204. PMID11668626. S2CID33547478.