Ontology highlight
ABSTRACT:
SUBMITTER: Yamamoto M
PROVIDER: S-EPMC3521167 | biostudies-literature | 2012
REPOSITORIES: biostudies-literature
Yamamoto Miyako M Cid Emili E Yamamoto Fumiichiro F
Scientific reports 20121213
Forssman heterophilic glycolipid antigen has structural similarity to the histo-blood group A antigen, and the GBGT1 gene encoding the Forssman glycolipid synthetase (FS) is evolutionarily related to the ABO gene. The antigen is present in various species, but not in others including humans. We have elucidated the molecular genetic basis of the Forssman antigen negativity in humans. In the human GBGT1 gene, we identified two common inactivating missense mutations (c.688G>A [p.Gly230Ser] and c.88 ...[more]