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 Chondroitin sulfate/dermatan sulfate metabolism and Metabolism. Gene Ontology (GO) annotations related to this gene include acetylglucosaminyltransferase activity and protein xylosyltransferase activity. An important paralog of this gene is XYLT2.
UniProtKB/Swiss-Prot Summary for XYLT1 Gene
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 (PubMed:15461586, PubMed:17189265, PubMed:24581741, PubMed:23982343). Required for normal embryonic and postnatal skeleton development, especially of the long bones (PubMed:24581741, PubMed:23982343). Required for normal maturation of chondrocytes during bone development, and normal onset of ossification (By similarity).