EC Number   |
General Information |
Reference |
|---|
   2.4.1.274 | physiological function |
B4galt6 KO mice are born and grow up apparently normal. LacCer synthase activity and the composition of acidic glycosphingolipids in the brain are almost equivalent or minimally different between wild-type and KO mice. B4GalT6 does not act as a major beta4GalT on the modification of glycoproteins |
736193 |
| 2.4.1.274 | physiological function |
elevated glucosylceramide beta-1,4-galactosyltransferase activity may contribute to the storage of lactosylceramide urinary proximal tubular cells from familial hypercholesterolemic patients |
714364 |
| 2.4.1.274 | physiological function |
generation of conditional knockout B4galt5 and B4galt6 double KO mice in the central nervous system. Lactosylceramide synthase activity and major brain gangliosides are completely absent in brain homogenates from the double KO mice, although Lactosylceramide synthase activity is about half its normal level in B4galt5 coditional KO mice and B4galt6 KO mice. The double KO mice are born normally but show growth retardation and motor deficits at 2 weeks and die by 4 weeks of age. Myelin-associated proteins are rarely found localized in axons in the cerebral cortex, and axonal and myelin formation are remarkably impaired in the spinal cords of the double KO mice. Neuronal cells, differentiated from isolated neurospheres, show impairments in neurite outgrowth and branch formation. The neurons are immature and perineuronal nets are poorly formed in double KO cerebral cortices |
758112 |
| 2.4.1.274 | physiological function |
the amounts of Lac-Cer and ganglioside GM3 are significantly less in a stable clone E5 whose beta4GalT5 gene expression level is reduced to 35% than in a control clone C1 by transfection of its antisense cDNA. The average tumor size and average number of colonies formed with clone E5 are decreased to 44 and 49%, respectively, of those formed with clone C1. The numbers and sizes of colonies formed in the soft agarose gels, and the volumes of tumors formed in athymic mice with fibroblasts from wild type, heterozygous and homozygous beta4GalT5-knockout mouse embryos upon transformation with the polyoma virus oncogene correlate with the beta4GalT5 gene dosage |
736198 |
