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

Stable Identifier
R-HSA-3595175
Type
Reaction [transition]
Species
Homo sapiens
Compartment
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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
18513679 Congenital joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in recessive Larsen syndrome and humero-spinal dysostosis

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

Am. J. Hum. Genet. 2008
20830804 Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: congenital dislocations and vertebral changes as principal diagnostic features

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

Am. J. Med. Genet. A 2010
15215498 Loss of chondroitin 6-O-sulfotransferase-1 function results in severe human chondrodysplasia with progressive spinal involvement

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

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

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

Am. J. Med. Genet. A 2008
Participants
Participant Of
Catalyst Activity
Catalyst Activity
Title
chondroitin 6-sulfotransferase activity of CHST3 mutants [Golgi membrane]
Physical Entity
Activity
Normal reaction
Disease
Name Identifier Synonyms
spondyloepimetaphyseal dysplasia 0080027
Authored
Reviewed
Created