Defective CHST14 does not transfer SO4(2-) to GalNAc in dermatan or DS

Stable Identifier
Reaction [transition]
Homo sapiens
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Carbohydrate sulfotransferase 14 (CHST14) (Evers et al. 2001) mediates the transfer of sulfate to position 4 of N-acetylgalactosamine (GalNAc) residue of dermatan or to a further GalNAc residue of dermatan sulfate (D2,4(S)2-PG) in iduronate rich domains. As 4-O sulfation by CHST14 is essential for DS formation, defective CHST14 results in much lower levels of DS and higher levels of chondroitin sulfate (CS) being produced. DS plays an important role in human development and extracellular matrix maintenance and defective CHST14 results in Ehlers-Danlos syndrome, musculocontractural type (MIM:601776). Mutations causing this disease include V49*, R213P, R135G/L137Q, Y293, P281L and the compound heterozygotes P281L/K69* and P281L/C285S (Dundar et al. 2009, Miyake et al. 2010).

Literature References
PubMed ID Title Journal Year
20004762 Loss of dermatan-4-sulfotransferase 1 function results in adducted thumb-clubfoot syndrome

Dündar, M, Müller, T, Zhang, Q, Pan, J, Steinmann, B, Vodopiutz, J, Gruber, R, Sonoda, T, Krabichler, B, Utermann, G, Baenziger, JU, Zhang, L, Janecke, AR

Am. J. Hum. Genet. 2009
20533528 Loss-of-function mutations of CHST14 in a new type of Ehlers-Danlos syndrome

Miyake, N, Kosho, T, Mizumoto, S, Furuichi, T, Hatamochi, A, Nagashima, Y, Arai, E, Takahashi, K, Kawamura, R, Wakui, K, Takahashi, J, Kato, H, Yasui, H, Ishida, T, Ohashi, H, Nishimura, G, Shiina, M, Saitsu, H, Tsurusaki, Y, Doi, H, Fukushima, Y, Ikegawa, S, Yamada, S, Sugahara, K, Matsumoto, N

Hum. Mutat. 2010
Participant Of
Catalyst Activity
Catalyst Activity
N-acetylgalactosamine 4-O-sulfotransferase activity of CHST14 mutants [Golgi membrane]
Physical Entity
Normal reaction
Name Identifier Synonyms
Ehlers-Danlos syndrome 13359 Cutis hyperelastica, elastic skin