Reaction: Defective CHST3 does not transfer SO4(2-) to chondroitin
- in pathway: Defective CHST3 causes SEDCJD
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).
Reaction - small molecule participants:
PAPS [Golgi lumen]
Reactome.org reaction link: R-HSA-3595175
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Reaction input - small molecules:
3'-phosphonato-5'-adenylyl sulfate(4-)
Reaction output - small molecules:
Reactome.org link: R-HSA-3595175