Defective CHST3 does not transfer SO4(2-) to chondroitin

Stable Identifier
Reaction [transition]
Homo sapiens
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Carbohydrate sulfotransferase 3 (CHST3 also known as C6ST-1) catalyzes the transfer of sulfate (SO4(2-)) from PAPS to position 6 of the N-acetylgalactosamine (GalNAc) residue of chondroitin-containing proteins resulting in chondroitin sulfate (C6S-PG), a major component of cartilage. Defects in CHST3 result in undersulfated CS, weakening cartilage structures and causing spondyloepiphyseal dysplasia with congenital joint dislocations (SEDC-JD; MIM:143095). Mutations causing SEDC-JD include R304Q, L259P, R222W, L307P, Y201*, E372K and L286P (Thiele et al. 2004, Hermanns et al. 2008, Unger et al. 2010, van Roij et al. 2008).
Literature References
PubMed ID Title Journal Year
20830804 Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: congenital dislocations and vertebral changes as principal diagnostic features

Chandler, K, Nampoothiri, S, Bonafe, L, Wakeling, E, Aytes, A, Unger, S, Mangold, E, Megarbane, A, Hall, B, Sillence, D, Superti-Furga, A, Rost, I, Reicherter, K, Lo, IF, Hoefele, J, Rossi, A, Lam, ST, Hollander, S, Afroze, B, Robertson, S, Spranger, J, Mendoza-Londono, R, Lausch, E, Godbole, K, Zabel, B, Vatanavicharn, N, Alcausin, M, Franco, LM, Velten, T

Am. J. Med. Genet. A 2010
18513679 Congenital joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in recessive Larsen syndrome and humero-spinal dysostosis

Dutoit, M, Rossi, A, Cortina, H, Bonafe, L, Unger, S, Boccone, L, Perez-Aytes, A, Superti-Furga, A, Setzu, V, Pecora, F, Spranger, J, Sangiorgi, L, Hermanns, P, Zabel, B, Nishimura, G, Reicherter, K

Am. J. Hum. Genet. 2008
15215498 Loss of chondroitin 6-O-sulfotransferase-1 function results in severe human chondrodysplasia with progressive spinal involvement

Sakano, M, Thiele, H, Mundlos, S, Leschik, G, Höhne, W, Ritter, H, Rajab, A, Sugahara, K, Kitagawa, H, Nürnberg, P

Proc. Natl. Acad. Sci. U.S.A. 2004
18698629 Spondyloepiphyseal dysplasia, Omani type: further definition of the phenotype

Meijers-Heijboer, H, Tan-Sindhunata, MB, Verbeke, JI, Markie, D, van Roij, MH, Sugahara, K, Yamada, S, Morgan, T, Robertson, SP, Mizumoto, S

Am. J. Med. Genet. A 2008
Catalyst Activity

chondroitin 6-sulfotransferase activity of CHST3 mutants [Golgi membrane]

Normal reaction
Functional status

Loss of function of CHST3 mutants [Golgi membrane]

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