Galactoside 3(4)-L-fucosyltransferase is an enzyme that in humans is encoded by the FUT3gene.[3][4][5]
Function
The Lewis histo-blood group system comprises a set of fucosylated glycosphingolipids that are synthesized by exocrine epithelial cells and circulate in body fluids. The glycosphingolipids function in embryogenesis, tissue differentiation, tumor metastasis, inflammation, and bacterial adhesion. They are secondarily absorbed to red blood cells giving rise to their Lewis phenotype. This gene is a member of the fucosyltransferase family, which catalyzes the addition of fucose to precursor polysaccharides in the last step of Lewis antigen biosynthesis. It encodes an enzyme with alpha(1,3)-fucosyltransferase and alpha(1,4)-fucosyltransferase activities. Mutations in this gene are responsible for the majority of Lewis antigen-negative phenotypes. Multiple alternatively spliced variants, encoding the same protein, have been found for this gene.[5]
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Nishihara S, Nakazato M, Kudo T, Kimura H, Ando T, Narimatsu H (Jan 1993). "Human alpha-1,3 fucosyltransferase (FucT-VI) gene is located at only 13 kb 3' to the Lewis type fucosyltransferase (FucT-III) gene on chromosome 19". Biochemical and Biophysical Research Communications. 190 (1): 42–6. doi:10.1006/bbrc.1993.1008. PMID7916594.
Elmgren A, Rydberg L, Larson G (Oct 1993). "Genotypic heterogeneity among Lewis negative individuals". Biochemical and Biophysical Research Communications. 196 (2): 515–20. doi:10.1006/bbrc.1993.2280. PMID8240322.
Nishihara S, Yazawa S, Iwasaki H, Nakazato M, Kudo T, Ando T, Narimatsu H (Oct 1993). "Alpha (1,3/1,4)fucosyltransferase (FucT-III) gene is inactivated by a single amino acid substitution in Lewis histo-blood type negative individuals". Biochemical and Biophysical Research Communications. 196 (2): 624–31. doi:10.1006/bbrc.1993.2295. PMID8240337.
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.
Elmgren A, Mollicone R, Costache M, Börjeson C, Oriol R, Harrington J, Larson G (Aug 1997). "Significance of individual point mutations, T202C and C314T, in the human Lewis (FUT3) gene for expression of Lewis antigens by the human alpha(1,3/1,4)-fucosyltransferase, Fuc-TIII". The Journal of Biological Chemistry. 272 (35): 21994–8. doi:10.1074/jbc.272.35.21994. PMID9268337.{{cite journal}}: CS1 maint: unflagged free DOI (link)
Pang H, Liu Y, Koda Y, Soejima M, Jia J, Schlaphoff T, Du Toit ED, Kimura H (Jun 1998). "Five novel missense mutations of the Lewis gene (FUT3) in African (Xhosa) and Caucasian populations in South Africa". Human Genetics. 102 (6): 675–80. doi:10.1007/s004390050760. PMID9703429. S2CID12651016.
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.