Carbohydrate sulfotransferase 14 (CHST14)

Carbohydrate sulfotransferase 14 (CHST14) is an enzyme responsible for transferring sulfate groups to the C-4 hydroxyl of N-acetyl-D-galactosamine residues in dermatan sulfate, a glycosaminoglycan critical for extracellular matrix integrity in tissues such as skin, tendons, cartilage, and vascular walls. CHST14-mediated sulfation is essential for dermatan sulfate biosynthesis, proper collagen fibril assembly, and structural resilience of connective tissue. Mutations in the CHST14 gene cause near-complete absence of dermatan sulfate, leading to deficient collagen organization and the clinical manifestations of musculocontractural Ehlers–Danlos syndrome (mcEDS), characterized by multisystem fragility, congenital malformations, and progressive tissue dysfunction. No drugs are currently described as targeting CHST14; its major clinical relevance is as a genetic cause of mcEDS and a critical enzyme for extracellular matrix maintenance.

Other names

Dermatan 4-sulfotransferase 1D4ST1D4ST-1hD4ST1HD4STUNQ1925/PRO4400ATCSEDSMC1HNK1STcarbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14carbohydrate (dermatan 4) sulfotransferase 14