Defective CHST3 causes SEDCJD

Stable Identifier
R-HSA-3595172
Type
Pathway
Species
Homo sapiens
Synonyms
Defective CHST3 causes spondyloepiphyseal dysplasia with congenital joint dislocations
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Carbohydrate sulfotransferase 3 (CHST3) transfers sulfate (SO4(2-)) to position 6 of N-acetylgalactosamine (GalNAc) residues of chondroitin-containg proteins resulting in chondroitin sulfate (CS), the predominant glycosaminoglycan present in cartilage. Defects in CHST3 result in spondyloepiphyseal dysplasia with congenital joint dislocations (SEDCJD; MIM:143095), a bone dysplasia clinically characterized by severe progressive kyphoscoliosis (abnormal curvature of the spine), arthritic changes with joint dislocations and short stature in adulthood (Unger et al. 2010).

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

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
Participants
Participant Of
Disease
Name Identifier Synonyms
spondyloepimetaphyseal dysplasia 0080027
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Reviewed
Created