ABO, Official Symbol ABOprovided by HGNC Official Full Name ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferaseprovided by HGNC Primary source HGNC:HGNC:79 See related Ensembl:ENSG00000175164 MIM:110300; AllianceGenome:HGNC:79 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as GTB; NAGAT; A3GALNT; A3GALT1 Summary This gene encodes proteins related to the first discovered blood group system, ABO. Variation in the ABO gene (chromosome 9q34.2) is the basis of the ABO blood group, thus the presence of an allele determines the blood group in an individual. 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. [provided by RefSeq, Apr 2022] Annotation information Annotation category: suggests misassembly Note: This gene has been reviewed for its involvement in coronavirus biology, and is locus in the vicinity of disease-associated variant(s). Expression Broad expression in colon (RPKM 14.5), small intestine (RPKM 11.5) and 15 other tissues See more Orthologs mouse all