DISEASES

Disease-gene associations mined from literature

Literature associating CHST12 and congenital central hypoventilation syndrome

CHST12 [ENSP00000481912]

Carbohydrate sulfotransferase 12; Catalyzes the transfer of sulfate to position 4 of the N- acetylgalactosamine (GalNAc) residue of chondroitin and desulfated dermatan sulfate. Chondroitin sulfate constitutes the predominant proteoglycan present in cartilage and is distributed on the surfaces of many cells and extracellular matrices. Activity toward partially desulfated dermatan sulfate is however lower. 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:  CHST12,  CHST12p,  hCHST12,  A0A024R860,  C9J991 ...

Linkouts:  STRING  Pharos  UniProt