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Beta-1, 3-glucuronyltransferase 1 (B3GAT1) is an enzyme encoded by the B3GAT1 gene, whose enzymatic activity creates the CD57 epitope on other cell surface proteins.
B3GAT1 encodes a member of the glucuronyl-transferase gene family that functions as the key enzyme in a glucuronyl transfer reaction during the biosynthesis of the carbohydrate epitope HNK-1 (Human Natural Killer-1, also known as CD57 and LEU7). The B3GAT1 gene and antigen CD57 play an important role in the immune system and tumor processes. CD57 is a marker of well-differentiated cells with high cytotoxic potential. In addition, regardless of the underlying disease, CD57 is a hallmark of immune system dysfunction. Changes in the glycosylation of plasma proteins caused by the B3GAT1 polymorphisms may be a predisposing or prognostic factor in numerous diseases.
Mastocytosis is a relatively uncommon disease that is classified as a myeloproliferative neoplasm. However, its symptoms are placing patients at the crossroads of dermatology, hematology, and allergology. Furthermore, there are significant differences in B3GAT1 gene expression in patients with IVA compared to patients without previous insect sting anaphylaxis.
When plasmodium falciparum replicates in infected red blood cells, the latter becomes more easily to be cleared through the spleen. Parasites express adhesion proteins on the surface of infected erythrocytes to avoid host clearance, which effectively anchor these cells to specific receptors in the host vasculature. In the placenta, VAR2CSA (Var gene subfamily, required for malaria parasite infection) binds to a distinct type of chondroitin sulfate (CS) glycosaminoglycan (GAG) chain called CSA. This is the key event underlying placental malaria pathogenesis. Within the CS maturation pathway, CHST11 mediates CSA-specific 4-O-sulfation of the GalNAc residues of the CS chain. B3GAT1 is required for the synthesis of the basal GlcA-Gal-Gal-Xyl-Ser linker tetrasaccharide common to all GAGs. RNAi-mediated knock down of B3GAT1, CSGALNACT1, and CHST11 expression inhibite the binding of VAR2 to U2OS cells.
B3GAT1 is the key enzyme in the biosynthesis of the carbohydrate epitope HNK-1, which is present on a number of cell adhesion molecules important in neurodevelopment. B3GAT1 close to the telomeres may also have an important impact on the genetic susceptibility to schizophrenia.