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CSGalNAcT-1 and Hapln-1 (show HAPLN1 Proteins) may play important roles in the pathogenesis of Kashin-Beck disease and osteoarthritis.
CSGalNAcT-1 exhibited higher enzymatic efficiency toward monosulfated trisaccharides substituted at C4 or C6 position of Gal1, and at C6 of Gal2 compared with the unsulfated oligosaccharide.
CSGALNACT1 missense mutations are associated with neuropathies.
These results suggest that this enzyme has N-acetylgalactosaminyltransferase (show B4GALNT2 Proteins) activity in both the elongation and initiation of chondroitin sulfate synthesis.
CSGalNAcT-1 is necessary for normal levels of endochondral ossification, and the decrease in CS amount in the growth plate by its absence causes a rapid catabolism of aggrecan (show ACAN Proteins).
Results suggest that CSGalNAcT1 is required for normal CS production in developing cartilage.
Transfers 1,4-N-acetylgalactosamine (GalNAc) from UDP- GalNAc to the non-reducing end of glucuronic acid (GlcUA). Required for addition of the first GalNAc to the core tetrasaccharide linker and for elongation of chondroitin chains. Important role in chondroitin chain biosynthesis in cartilage.
chondroitin beta1,4 N-acetylgalactosaminyltransferase
, chondroitin sulfate N-acetylgalactosaminyltransferase 1
, chondroitin beta-1,4-N-acetylgalactosaminyltransferase 1
, beta1,4 N-acetylgalactosaminyltransferase