Aliases for GXYLT2 Gene
External Ids for GXYLT2 Gene
Previous HGNC Symbols for GXYLT2 Gene
Previous GeneCards Identifiers for GXYLT2 Gene
GXYLT2 is a xylosyltransferase (EC 2.4.2.-) that adds the first xylose to O-glucose-modified residues in the epidermal growth factor (EGF; MIM 131530) repeats of proteins such as NOTCH1 (MIM 190198) (Sethi et al., 2010 [PubMed 19940119]).[supplied by OMIM, Mar 2010]
GeneCards Summary for GXYLT2 Gene
GXYLT2 (Glucoside Xylosyltransferase 2) is a Protein Coding gene. Among its related pathways are Defective B4GALT7 causes EDS, progeroid type and Other types of O-glycan biosynthesis. GO annotations related to this gene include transferase activity, transferring glycosyl groups and UDP-xylosyltransferase activity. An important paralog of this gene is GXYLT1.
UniProtKB/Swiss-Prot for GXYLT2 Gene
Glycosyltransferase which elongates the O-linked glucose attached to EGF-like repeats in the extracellular domain of Notch proteins by catalyzing the addition of xylose.