Disease-gene associations mined from literature

Literature associating CHSY1 and Coffin-Siris syndrome 2

CHSY1 [ENSP00000254190]

Glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase 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,  Q86X52,  CHSY ...

Linkouts:  STRING  Pharos  UniProt  OMIM