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This gene encodes proteins related to the first discovered blood group system, ABO. Which allele is present in an individual determines the blood group. The 'O' blood group is caused by a deletion of guanine-258 near the N-terminus of the protein which results in a frameshift and translation of an almost entirely different protein. Individuals with the A, B, and AB alleles express glycosyltransferase activities that convert the H antigen into the A or B antigen. Other minor alleles have been found for this gene.
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Protein Aliases: A transferase; A1-specific alpha 1-3-N-acetylgalactosaminyltransferase; ABO A3 transferase; ABO glycosyltransferase; ABO weak transfer; B transferase; B(A) alpha-1,3-galactosyltransferase; fucosylglycoprotein; Fucosylglycoprotein 3-alpha-galactosyltransferase; Fucosylglycoprotein alpha-N-acetylgalactosaminyltransferase; Glycoprotein-fucosylgalactoside alpha-galactosyltransferase; Glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase; glycosyltransferase A; glycosyltransferase B; Histo-blood group A transferase; histo-blood group A2 transferase; Histo-blood group ABO system transferase; Histo-blood group B transferase; NAGAT; Transferase; transferase A
Gene Aliases: A3GALNT; A3GALT1; ABO; GTB; NAGAT
UniProt ID: (Human) P16442
Entrez Gene ID: (Human) 28
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