Aliases for CHST3 Gene
External Ids for CHST3 Gene
Previous GeneCards Identifiers for CHST3 Gene
This gene encodes an enzyme which catalyzes the sulfation of chondroitin, a proteoglycan found in the extracellular matrix and most cells which is involved in cell migration and differentiation. Mutations in this gene are associated with spondylepiphyseal dysplasia and humerospinal dysostosis. [provided by RefSeq, Mar 2009]
GeneCards Summary for CHST3 Gene
CHST3 (Carbohydrate Sulfotransferase 3) is a Protein Coding gene. Diseases associated with CHST3 include Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations and Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects. Among its related pathways are Glycosaminoglycan metabolism and Articular Cartilage Extracellular Matrix Pathway. Gene Ontology (GO) annotations related to this gene include sulfotransferase activity and chondroitin 6-sulfotransferase activity. An important paralog of this gene is CHST1.
UniProtKB/Swiss-Prot for CHST3 Gene
Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the transfer of sulfate to position 6 of the N-acetylgalactosamine (GalNAc) residue of chondroitin. Chondroitin sulfate constitutes the predominant proteoglycan present in cartilage and is distributed on the surfaces of many cells and extracellular matrices. Can also sulfate Gal residues of keratan sulfate, another glycosaminoglycan, and the Gal residues in sialyl N-acetyllactosamine (sialyl LacNAc) oligosaccharides. May play a role in the maintenance of naive T-lymphocytes in the spleen.