Aliases for XYLT1 Gene
External Ids for XYLT1 Gene
Previous GeneCards Identifiers for XYLT1 Gene
This locus encodes a xylosyltransferase enzyme. The encoded protein catalyzes transfer of UDP-xylose to serine residues of an acceptor protein substrate. This transfer reaction is necessary for biosynthesis of glycosaminoglycan chains. Mutations in this gene have been associated with increased severity of pseudoxanthoma elasticum.[provided by RefSeq, Nov 2009]
GeneCards Summary for XYLT1 Gene
XYLT1 (Xylosyltransferase 1) is a Protein Coding gene. Diseases associated with XYLT1 include desbuquois dysplasia 2 and pseudoxanthoma elasticum. Among its related pathways are Defective B3GAT3 causes JDSSDHD and heparan sulfate biosynthesis. GO annotations related to this gene include acetylglucosaminyltransferase activity and protein xylosyltransferase activity. An important paralog of this gene is XYLT2.
UniProtKB/Swiss-Prot for XYLT1 Gene
Catalyzes the first step in biosynthesis of glycosaminoglycan. Transfers D-xylose from UDP-D-xylose to specific serine residues of the core protein. Initial enzyme in the biosynthesis of chondroitin sulfate and dermatan sulfate proteoglycans in fibroblasts and chondrocytes.