Defective CHSY1 does not transfer GlcA to chondroitin

Stable Identifier
R-HSA-3595178
Type
Reaction [FailedReaction]
Species
Homo sapiens
Compartment
Locations in the PathwayBrowser
Summation

Chondroitin sulfate synthase 1 (CHSY1) (Kitagawa et al. 2001) possesses both beta-1,3-glucuronic acid and beta-1,4-N-acetylgalactosamine transferase activity, adding alternatingly the two building blocks GlcA and GalNAc to the growing chondroitin chain. Complete or almost complete loss of CHSY1 results in temtamy preaxial brachydactyly syndrome (TPBS; MIM:605282), an autosomal recessive characterized by limb malformations, short stature, and hearing loss. Mutations in CHSY1 leading to loss of function include E33Sfs*34, G19_L28del, P539R and Q69* (Temtamy et al. 1998, Li et al. 2010).

Literature References
PubMed ID Title Journal Year
11514575 Molecular cloning and expression of a human chondroitin synthase

Kitagawa, H, Uyama, T, Sugahara, K

J Biol Chem 2001
21129728 Temtamy preaxial brachydactyly syndrome is caused by loss-of-function mutations in chondroitin synthase 1, a potential target of BMP signaling

Li, Y, Laue, K, Temtamy, S, Aglan, M, Kotan, LD, Yigit, G, Canan, H, Pawlik, B, Nürnberg, G, Wakeling, EL, Quarrell, OW, Baessmann, I, Lanktree, MB, Yilmaz, M, Hegele, RA, Amr, K, May, KW, Nürnberg, P, Topaloglu, AK, Hammerschmidt, M, Wollnik, B

Am J Hum Genet 2010
9823490 A new multiple congenital anomaly, mental retardation syndrome with preaxial brachydactyly, hyperphalangism, deafness and orodental anomalies

Temtamy, SA, Meguid, NA, Ismail, SI, Ramzy, MI

Clin. Dysmorphol. 1998
Participants
Participant Of
Disease
Name Identifier Synonyms
brachydactyly 0050581
Authored
Reviewed