DISEASES

Disease-gene associations mined from literature

Literature associating CHPF2 and Coffin-Siris syndrome 3

CHPF2 [ENSP00000035307]

N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase; Transfers glucuronic acid (GlcUA) from UDP-GlcUA to N- acetylgalactosamine residues on the non-reducing end of the elongating chondroitin polymer. Has no N- acetylgalactosaminyltransferase activity; Beta 3-glycosyltransferases

Synonyms:  CHPF2,  CHPF2p,  hCHPF2,  C9JZF7,  CHPF2-001 ...

Linkouts:  STRING  Pharos  UniProt  OMIM