Literature associating CHSY1 and Coffin-Siris syndrome 3
CHSY1 [ENSP00000254190]
Chondroitin sulfate synthase 1; 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. Involved in the negative control of osteogenesis likely through the modulation of NOTCH signaling.
Synonyms: CHSY1, CHSY1p, hCHSY1, A0A2R8Y7B7, Q86X52 ...