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The study identified a region on chromosome 6 comprising the genes SMAP1, B3GAT2, and RIMS1 as novel susceptibility locus for pediatric venous thromboembolism.
B3GAT2 and ZNF793 are hypermethylated in BE, and the methylation status of these genes can be used to detect BE in tissue samples.
results suggest that effects on biosynthesis of the neuronal epitope HNK-1, through common B3GAT2 variation, could increase the risk of SCZ, possibly by decreasing cortical area.
human GlcAT-S gene-located on human chromosome 6 encodes a protein involved in biosynthesis of HNK-1 (show B3GAT1 Proteins) carbohydrate epitope on glycoproteins.
Residues interacting with UDP molecule, which is a part of the donor substrate, are highly conserved between GlcAT-P (show B3GAT1 Proteins) and GlcAT-S
moderate expression of GlcAT-S were seen in neuronal cells of several nuclei of limbic-related regions
The product of this gene is a transmembrane protein belonging to the glucuronyltransferase family, and catalyzes the transfer of a beta-1,3 linked glucuronic acid to a terminal galactose in different glycoproteins or glycolipids containing a Gal-beta-1-4GlcNAc or Gal-beta-1-3GlcNAc residue. The encoded protein is involved in the synthesis of the human natural killer-1 (HNK-1) carbohydrate epitope, a sulfated trisaccharide implicated in cellular migration and adhesion in the nervous system.
, UDP-glucuronyltransferase S
, galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 2
, glucuronosyltransferase S
, uridine diphosphate glucuronic acid:acceptor glucuronosyltransferase
, galactoside beta-1,3-glucuronyltransferase