chondroitin sulfate synthase 1; chondroitin glucuronyltransferase 1; chondroitin synthase 1; ChSy-1; glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase 1; N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase 1; N-acetylgalactosaminyltransferase 1 (CHSY1, CHSY, CSS1, KIAA0990, UNQ756/PRO1487)

Function

• both beta-1,3-glucuronic acid & beta-1,4-N-acetyl galactosamine transferase activity
• transfers GlcUA from UDP-GlcUA & GalNAc UDP-GalNAc non-reducing end of elongating chondroitin polymer
• activity is much reduced compared to CHSY1

Cofactor: divalent cations Co+2, Mn+2, Cd+2

Structure

• belongs to the chondroitin N- acetylgalactosaminyltransferase family

Compartment

Golgi

Expression

• expressed at low levels in brain, cerebral cortex, uterus, small intestine

Pathology

• defects in CHSY1 are the cause of Temtamy preaxial brachydactyly syndrome

More general terms

• chondroitin sulfate synthase
• membrane protein

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=22856
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:22856
• OMIM: https://mirror.omim.org/entry/605282
• OMIM: https://mirror.omim.org/entry/608183
• UniProt: http://www.uniprot.org/uniprot/Q86X52.html