Xylosyltransferase 1

Definition:

Catalyzes the first step in the biosynthesis of chondroitin sulfate and dermatan sulfate proteoglycans, such as DCN. Transfers D-xylose from UDP-D-xylose to specific serine residues of the core protein. Required for normal embryonic and postnatal skeleton development, especially of the long bones. Required for normal maturation of chondrocytes during bone development, and normal onset of ossification (By similarity).

References:

[1]. Catherine Bui, et al. XYLT1 mutations in Desbuquois dysplasia type 2. Am J Hum Genet. 2014 Mar 6;94(3):405-14. [Content Brief]

[2]. Julia Schreml, et al. The missing "link": an autosomal recessive short stature syndrome caused by a hypofunctional XYLT1 mutation. Hum Genet. 2014 Jan;133(1):29-39. [Content Brief]

[3]. Sandra Müller, et al. Human xylosyltransferase I: functional and biochemical characterization of cysteine residues required for enzymic activity. Biochem J. 2005 Mar 1;386(Pt 2):227-36. [Content Brief]

[4]. 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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