Literature summary for 2.8.2.17 extracted from

Thiele, H.; Sakano, M.; Kitagawa, H.; Sugahara, K.; Rajab, A.; Hoehne, W.; Ritter, H.; Leschik, G.; Nuernberg, P.; Mundlos, S.
Loss of chondroitin 6-O-sulfotransferase-1 function results in severe human chondrodysplasia with progressive spinal involvement (2004), Proc. Natl. Acad. Sci. USA, 101, 10155-10160.

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Application

Application	Comment	Organism
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	Homo sapiens

Protein Variants

Protein Variants	Comment	Organism
R304Q	missense mutation found in patients with a distinct form of spondyloepiphyseal dysplasia, SED Omani type, complete loss of activity, resulting in significant reduction of both DELTAHexA-GalNAc(6S) and DELTAHexA(2S)-GalNAc(6S) and elevate levels of DELTAHexA-GalNAc(4S,6S)	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	patients with a distinct form of spondyloepiphyseal dysplasia, SED Omani type	-

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Release 2023.1 (January 2023)