Aliases for CSGALNACT1 Gene
External Ids for CSGALNACT1 Gene
Previous GeneCards Identifiers for CSGALNACT1 Gene
GeneCards Summary for CSGALNACT1 Gene
CSGALNACT1 (Chondroitin Sulfate N-Acetylgalactosaminyltransferase 1) is a Protein Coding gene. Diseases associated with CSGALNACT1 include Desbuquois Dysplasia and Desbuquois Dysplasia 1. Among its related pathways are Chondroitin sulfate/dermatan sulfate metabolism and Glycosaminoglycan metabolism. GO annotations related to this gene include glucuronosyltransferase activity and glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity. An important paralog of this gene is CSGALNACT2.
UniProtKB/Swiss-Prot for CSGALNACT1 Gene
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 formation and subsequent endochondral ossification (PubMed:11788602, PubMed:12163485, PubMed:12446672, PubMed:17145758). Moreover, is involved in the metabolism of aggrecan (By similarity).