Disease-gene associations mined from literature

Literature associating CHSY3 and Coffin-Siris syndrome 3

CHSY3 [ENSP00000302629]

Glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase II; Has both beta-1,3-glucuronic acid and beta-1,4-N- acetylgalactosamine transferase activity. Transfers glucuronic acid (GlcUA) from UDP-GlcUA and N-acetylgalactosamine (GalNAc) from UDP-GalNAc to the non-reducing end of the elongating chondroitin polymer. Specific activity is much reduced compared to CHSY1.

Synonyms:  CHSY3,  CHSY3p,  hCHSY3,  CHSY2,  Q1JTV1 ...

Linkouts:  STRING  Pharos  UniProt  OMIM