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Data indicate a phosphorylated tetrasaccharide linkage structure, GlcUAbeta1-3Galbeta1-3Galbeta1-4Xyl(2-O-phosphate), in chondroitin N-acetylgalactosaminyltransferase-1 knockout ChGn (zeige CSGALNACT1 Proteine)-1(-/-) growth plate cartilage.
The results showed that Chsy1 is an essential regulator of joint patterning and provide a mouse model of human brachydactylies caused by mutations in CHSY1.
CHSY1 overexpression in HCC (zeige FAM126A Proteine) contributes to the malignant behavior of hepatocellular carcinoma cells via activation of the hedgehog (zeige SHH Proteine) signaling pathway.
CHSY1 expression is closely associated with malignant potential of soft tissue sarcomas with myxoid substance.
A novel missense mutation (c.1897 G > A) in the CHSY1 gene in two Temtamy preaxial brachydactyly syndrome patients from a consanguineous Pakistani family.
elongation of chondroitin sulfate chains may be tightly regulated by the cooperative expression of chondroitin synthase-1 and chondroitin N-acetylgalactosaminyltransferase-1 in peripheral neurons and peripheral neuropathies
conclude that CHSY1 is a secreted FRINGE enzyme required for adjustment of NOTCH (zeige NOTCH1 Proteine) signaling throughout human and fish embryogenesis and particularly during limb patterning
unrestricted Bmp2b (zeige BMP4 Proteine) signaling or loss of Dan activity leads to reduced chsy1 expression and, during epithelial morphogenesis, defects similar to those that occur upon Chsy1 inactivation
chondroitin polymerizing activity requires concomitant expression of a ChPF (zeige CHPF Proteine) with ChSy; coexpression of the ChPF (zeige CHPF Proteine) and ChSy yielded markedly augmented glycosyltransferase (zeige GTDC2 Proteine) activities, whereas simple mixing of the two separately expressed proteins did not.
This gene encodes a member of the chondroitin N-acetylgalactosaminyltransferase family. These enzymes possess dual glucuronyltransferase and galactosaminyltransferase activity and play critical roles in the biosynthesis of chondroitin sulfate, a glycosaminoglycan involved in many biological processes including cell proliferation and morphogenesis. Decreased expression of this gene may play a role in colorectal cancer, and mutations in this gene are a cause of temtamy preaxial brachydactyly syndrome.
N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase 1
, N-acetylgalactosaminyltransferase 1
, carbohydrate (chondroitin) synthase 1
, chondroitin glucuronyltransferase 1
, chondroitin synthase 1
, glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase 1
, N-acetylgalactosaminyltransferase II
, carbohydrate synthase 1
, chondroitin glucuronyltransferase II
, chondroitin sulfate synthase 1