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Official Full Name
ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)
Background
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.
Synonyms
ABO; ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase); histo-blood group ABO system transferase; A3GALNT; A3GALT1; ABO glycosyltransferase; histo-blood group A transferase; histo-; histo-blood group B transferase; histo-blood group A2 transferase; B(A) alpha-1,3-galactosyltransferase; fucosylglycoprotein 3-alpha-galactosyltransferase; fucosylglycoprotein alpha-N-acetylgalactosaminyltransferase; glycoprotein-fucosylgalactoside alpha-galactosyltransferase; glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase; GTB; NAGAT; si:dkey-16g11.2; uncharacterized protein LOC563897

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