DISEASES

Disease-gene associations mined from literature

Literature associating CHST11 and Costello syndrome

CHST11 [ENSP00000305725]

Carbohydrate (chondroitin 4) sulfotransferase 11; Catalyzes the transfer of sulfate to position 4 of the N-acetylgalactosamine (GalNAc) residue of chondroitin. Chondroitin sulfate constitutes the predominant proteoglycan present in cartilage and is distributed on the surfaces of many cells and extracellular matrices. Can also sulfate Gal residues in desulfated dermatan sulfate. Preferentially sulfates in GlcA->GalNAc unit than in IdoA->GalNAc unit. Does not form 4, 6- di-O-sulfated GalNAc when chondroitin sulfate C is used as an acceptor; Belongs to the sulfotransferase 2 family.

Synonyms:  CHST11,  CHST11p,  hCHST11,  A0A024RBL0,  F8VRG6 ...

Linkouts:  STRING  Pharos  UniProt  OMIM