Protein Name chondroitin sulfate N-acetylgalactosaminyltransferase 1
Organism Homo sapiens
Gene ID 55790
Gene Symbol

CSGALNACT1

UniProt Q8TDX6 (CGAT1_HUMAN)
Relationships Total Number of functionally related compound(s) : 18
Total Number of Articles : 12
Description

chondroitin sulfate N-acetylgalactosaminyltransferase 1

Gene Summary

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
  • chondroitin sulfate N-acetylgalactosaminyltransferase 1
  • beta4GalNAcT-1
  • chondroitin beta-1,4-N-acetylgalactosaminyltransferase 1
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Properties