EC Number   |
General Information |
Reference |
|---|
    2.4.1.226 | evolution |
the enzyme is a member of the ChSy family |
735696 |
| 2.4.1.226 | malfunction |
analysis of the craniofacial morphology in chondroitin sulfate N-acetylgalactosaminyltransferase-1 (T1) gene knockout (KO) mice. T1KO mice shows the impaired intramembranous ossification in the skull, and the final skull shape of adult mice include a shorter face, higher and broader calvaria than wild-type. Some of T1KO mice exhibit severe facial developmental defects, such as eye defects and cleft lip and palate, causing embryonic lethality. At the postnatal stages, T1KO mice with severely reduced chondroitin sulfate (CS) amounts show malocclusion, general skeletal dysplasia and skin hyperextension, closely resembling Ehlers-Danlos syndrome-like connective tissue disorders. The production of collagen type 1 is significantly downregulated in T1KO mice, and the deposition of CS-binding molecules, Wnt3a, is decreased with CS in extracellular matrices. The collagen fibers are irregular and aggregated, and connective tissues are dysorganized in the skin and calvaria of T1KO mice |
760165 |
| 2.4.1.226 | malfunction |
chondroitin sulfate N-acetylgalactosaminyltransferase-2 deletion alleviates lipoprotein retention in early atherosclerosis and attenuates aortic smooth muscle cell (ASMC) migration through attenuating PDGFR phosphorylation. Effects of CHPF gene deletion on the development of atherosclerosis, overview |
758734 |
| 2.4.1.226 | malfunction |
chondroitin sulfate N-acetylgalactosaminyltransferase-2 deletion alleviates lipoprotein retention in early atherosclerosis and attenuates aortic smooth muscle cell migration. Effects of ChGn-2 gene deletion on the development of atherosclerosis, overview |
-, 758734 |
| 2.4.1.226 | malfunction |
correlation between clinicopathological features and expression of CS synthases in glioma patients. The changes of cell surface CS and its contribution to malignant growth of glioma cells are analyzed, by manipulating CS synthase 1 (CHSY1) expression. Overexpression of CHSY1 inhibits PDGF-triggered decrease in PDGFRA levels, whereas CHSY1 knockdown accelerates PDGFRA decrease following PDGF stimulation. PDGFRA is highly expressed on the cell membrane of CHSY1-overexpressing GL261 tumor tissue sections. PDGFRA inhibition reverses CHSY1-mediated tumor growth in vitro and in vivo |
759875 |
| 2.4.1.226 | malfunction |
missense mutations in the ChGn-1 gene results in an altered amount of chondroitin sulfate proteoglycans |
736890 |
| 2.4.1.226 | malfunction |
reduced glucuronyltransferase activity for splice variant CSS2B and no polymerizing activity for CSS2B co-expressed with CSS1, in contrast to splice variant CSS2A co-expressed with CSS1 |
-, 722689 |
| 2.4.1.226 | malfunction |
silencing of CHSY1 decreases sulfated glycosaminoglycan accumulation in nucleus pulposus cells induced by TGF-beta |
735915 |
| 2.4.1.226 | malfunction |
two missense mutations occur in the chondroitin N-acetylgalactosaminyltransferase-1 gene in patients with neuropathy. These mutations are associated with a profound decrease in enzyme activity. The chondroitin synthase-1 F362S mutation in a patient with neuropathy results in a decrease in chondroitin polymerization activity and the mutant protein is defective in regulating the number of chondroitin sulfate chains via CHSY1. The progression of peripheral neuropathies may result from defects in these regulatory systems |
735696 |
| 2.4.1.226 | metabolism |
the biosynthesis of chondroitin sulfate (CS) chains begins with the formation of a link between N-acetylgalactosamine (GalNAc) and a common tetrasaccharide structure at a serine residue on the core protein. The next step (polymerization) is catalyzed by a group of bifunctional enzymes that have beta1-3 glucuronosyltransferase and beta1-4 N-acetylgalactosaminyltransferase activities. A single CS chain can consist of up to 50 repeating GlcA-GalNAc subunits, which are modified with sulfate groups at various positions. Three bifunctional CS synthases, CHSY1, CHPF (CHSY2), and CHSY3, control polymerization of CS chains |
759875 |
