Aliases for GXYLT1 Gene
External Ids for GXYLT1 Gene
Previous HGNC Symbols for GXYLT1 Gene
Previous GeneCards Identifiers for GXYLT1 Gene
GXYLT1 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 GXYLT1 Gene
GXYLT1 (Glucoside Xylosyltransferase 1) is a Protein Coding gene. Diseases associated with GXYLT1 include Dowling-Degos Disease and Adams-Oliver Syndrome. Among its related pathways are Mucin type O-glycan biosynthesis. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring glycosyl groups and UDP-xylosyltransferase activity. An important paralog of this gene is GXYLT2.
UniProtKB/Swiss-Prot Summary for GXYLT1 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.