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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; ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase); alpha 1-3-N-acetylgalactosaminyltransferase; Any polymorphism or mutation that changes the activity or specificity of the encoded enzyme may therefore alter the ABO phenotype.; B transferase; B(A) alpha-1,3-galactosyltransferase; Bel; Fucosylglycoprotein 3-alpha-galactosyltransferase; Fucosylglycoprotein alpha-N-acetylgalactosaminyltransferase; Glycoprotein-fucosylgalactoside alpha-galactosyltransferase; Glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase; Histo-blood group A transferase; histo-blood group A transferase (UDP-GalNAc); histo-blood group A2 transferase; Histo-blood group ABO system transferase; Histo-blood group B transferase; NAGAT; transferase A; A glycosyltransferase; transferase B; Unknown; unnamed protein product
Gene Aliases: A3GALNT; A3GALT1; ABO; GTB; NAGAT
UniProt ID: (Human) P16442
Entrez Gene ID: (Human) 28
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