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Literature summary for 2.4.1.228 extracted from

  • Suchanowska, A.; Kaczmarek, R.; Duk, M.; Lukasiewicz, J.; Smolarek, D.; Majorczyk, E.; Jaskiewicz, E.; Laskowska, A.; Wasniowska, K.; Grodecka, M.; Lisowska, E.; Czerwinski, M.
    A single point mutation in the gene encoding Gb3/CD77 synthase causes a rare inherited polyagglutination syndrome (2012), J. Biol. Chem., 287, 38220-38230.
    View publication on PubMedView publication on EuropePMC

Protein Variants

Protein Variants Comment Organism
Q211E naturally occuring mutation enabeling the mutant to synthesize unique globoside (Gb4Cer) NOR derivatives, overview Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens Q9NPC4 gene A4GALT
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Source Tissue

Source Tissue Comment Organism Textmining
erythrocyte rare polyagglutinable NOR erythrocytes Homo sapiens
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Synonyms

Synonyms Comment Organism
alpha1,4-galactosyltransferase
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Homo sapiens
Gb3/CD77 synthase
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Homo sapiens

General Information

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