Xylosyltransferase 2

Definition:

Catalyzes the first step in the biosynthesis of chondroitin sulfate, heparan sulfate and dermatan sulfate proteoglycans, such as DCN. Transfers D-xylose from UDP-D-xylose to specific serine residues of the core protein.

References:

[1]. Craig F Munns, et al. Homozygosity for frameshift mutations in XYLT2 result in a spondylo-ocular syndrome with bone fragility, cataracts, and hearing defects. Am J Hum Genet. 2015 Jun 4;96(6):971-8. [Content Brief]

[2]. Claudia Pönighaus, et al. Human xylosyltransferase II is involved in the biosynthesis of the uniform tetrasaccharide linkage region in chondroitin sulfate and heparan sulfate proteoglycans. J Biol Chem. 2007 Feb 23;282(8):5201-6. [Content Brief]

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