NCIt synonyms : ABO Blood Group (Transferase A, Alpha 1-3-N-Acetylgalactosaminyltransferase; Transferase
B, Alpha 1-3-Galactosyltransferase) wt Allele; GTB; A3GALT1; A3GALNT; NAGAT;
NCIt definition : Human ABO wild-type allele is located in the vicinity of 9q34.2 and is approximately
2 kb in length. This allele, which encodes histo-blood group ABO system transferase
protein, plays a role in blood group determination. Variation of the gene determines
whether the protein can catalyze the transfer of carbohydrates to the H antigen to
form carbohydrate antigen A or B on the surface of red blood cells.;
NCIt note : The O phenotype results from a single base frameshift in the ABO gene, which encodes
a truncated protein that lacks catalytic activity.;