CHST14
CHST14
A gene on chromosome 15q15.1 that encodes a sulfotransferase which catalyses the transfer of sulfate to position 4 of the GalNAc residue of chondroitin, generating chondroitin sulfate, the predominant proteoglycan present in cartilage and on the surfaces of many cells and in the extracellular matrix. It is highly expressed in adult liver.Molecular pathology
Defects in CHST14 cause Ehlers-Danlos syndrome, musculocontractural type.