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CSGALNACT1

Official Full Name
chondroitin sulfate N-acetylgalactosaminyltransferase 1
Organism
Homo sapiens
GeneID
55790
Background
This gene encodes an enzyme that transfers N-acetylglucosamine (GalNAc) to the core tetrasaccharide linker and to elongating chondroitin sulfate chains in proteoglycans. Knockout of the orthologous mouse gene indicates that the protein is necessary for normal cartilage development and aggrecan metabolism. Mutations in this gene are associated with multiple sclerosis progression, and with mild skeletal dysplasia and joint laxity. [provided by RefSeq, Aug 2017]
Synonyms
ChGn; ChGn-1; SDJLABA; CSGalNAcT-1; beta4GalNAcT;

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