Protein Variants | Comment | Organism |
---|---|---|
Q211E | naturally occuring mutation enabeling the mutant to synthesize unique globoside (Gb4Cer) NOR derivatives, overview | Homo sapiens |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | Q9NPC4 | gene A4GALT | - |
Source Tissue | Comment | Organism | Textmining |
---|---|---|---|
erythrocyte | rare polyagglutinable NOR erythrocytes | Homo sapiens | - |
Synonyms | Comment | Organism |
---|---|---|
alpha1,4-galactosyltransferase | - |
Homo sapiens |
Gb3/CD77 synthase | - |
Homo sapiens |
General Information | Comment | Organism |
---|---|---|
additional information | the naturally occuring mutation Q211E enables the Gb3/CD77 synthase mutant to synthesize unique globoside (Gb4Cer) NOR derivatives, overview. The NOR antigen appears as a result of the C631G mutation in the gene encoding Gb3/CD77 synthase. Expression of NOR antigen is correlated with expression of the P1 antigen | Homo sapiens |
physiological function | the enzyme is involved in the biosynthesis of unique globoside (Gb4Cer) derivatives, NOR1, NORint, and NOR2, in which Gal(alpha1-4), GalNAc(beta1-3)Gal(alpha1-4), and Gal(alpha1-4)GalNAc(beta1-3)Gal(alpha1-4), respectively, are linked to the terminal GalNAc residue of Gb4Cer, transfer of Gal to GalNAc, overview | Homo sapiens |