EC Number |
General Information |
Reference |
---|
2.4.1.88 | malfunction |
GBGT1 expression is epigenetically silenced through promoter hypermethylation in ovarian cancer |
735858 |
2.4.1.88 | metabolism |
the enzyme catalyzes the last step in the multi-step biosynthesis of the Forssman antigen, Fs antigen, a pentaglycosyl ceramide of the globo series glycosphingolipids. Involvement of DNA methylation in the synthesis of Fs antigen |
735858 |
2.4.1.88 | more |
the extent of DNA methylation inversely correlates with GBGT1 mRNA and protein expression |
735858 |
2.4.1.88 | physiological function |
the deletion of exon 3 or 4, but not of exon 2 or 5, of human GTA transcripts bestows moderate Forssman glycolipid synthase activity. Strong Forssman glycolipid synthase activity is attained, in addition to GTA and GTB activities, by cointroducing one of those deletions and the replacement of the LeuGlyGly tripeptide sequence at codons 266 to 268 by GlyGlyAla substitution, i.e. to the residues of Forssman glycolipid synthase |
758457 |