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2.8.2.17
medicine
missense mutation R304Q found in patients with a distinct form of spondyloepiphyseal dysplasia, SED Omani type, leads to complete loss of activity, resulting in significant reduction of both DELTAHexA-GalNAc(6S) and DELTAHexA(2S)-GalNAc(6S) and elevated levels of DELTAHexA-GalNAc(4S,6S). Defect in chondroitin sulfate chain sulfation results in chondrodysplasia with major involvement of the spine
663209
2.8.2.17
synthesis
the enzyme is used for large scale chondroitin sulfate synthesis in a coupled system with aryl sulfotransferase IV and chondroitin 4-sulfotransferase, overview
760752
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