This gene encodes proteins related to the first discoveredblood group system, ABO. Which allele is present in an individualdetermines the blood group. The 'O' blood group is caused by adeletion of guanine-258 near the N-terminus of the protein whichresults in a frameshift and translation of an almost entirelydifferent protein. Individuals with the A, B, and AB allelesexpress glycosyltransferase activities that convert the H antigeninto the A or B antigen. Other minor alleles have been found forthis gene.
Pathway
Glycosphingolipid biosynthesis - lacto and neolacto series
Citations
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