Aliases for XYLT2 Gene
External Ids for XYLT2 Gene
Previous GeneCards Identifiers for XYLT2 Gene
The protein encoded by this gene is an isoform of xylosyltransferase, which belongs to a family of glycosyltransferases. This enzyme transfers xylose from UDP-xylose to specific serine residues of the core protein and initiates the biosynthesis of glycosaminoglycan chains in proteoglycans including chondroitin sulfate, heparan sulfate, heparin and dermatan sulfate. The enzyme activity, which is increased in scleroderma patients, is a diagnostic marker for the determination of sclerotic activity in systemic sclerosis. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2013]
GeneCards Summary for XYLT2 Gene
XYLT2 (Xylosyltransferase 2) is a Protein Coding gene. Diseases associated with XYLT2 include spondyloocular syndrome 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 GCNT1.
UniProtKB/Swiss-Prot for XYLT2 Gene
Involved in the formation of heparan sulfate and chondroitin sulfate proteoglycans (PubMed:26027496). Probably 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 (By similarity). Its enzyme activity has not been demonstrated.