Aliases for EXTL1 Gene
External Ids for EXTL1 Gene
Previous GeneCards Identifiers for EXTL1 Gene
This gene is a member of the multiple exostoses (EXT) family of glycosyltransferases, which function in the chain polymerization of heparan sulfate and heparin. The encoded protein harbors alpha 1,4- N-acetylglucosaminyltransferase activity, and is involved in chain elongation of heparan sulfate and possibly heparin. [provided by RefSeq, Jul 2008]
GeneCards Summary for EXTL1 Gene
EXTL1 (Exostosin Like Glycosyltransferase 1) is a Protein Coding gene. Diseases associated with EXTL1 include Hereditary Multiple Exostoses and Exostosis. Among its related pathways are Metabolism and heparan sulfate biosynthesis. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring hexosyl groups and glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity. An important paralog of this gene is EXT1.
UniProtKB/Swiss-Prot Summary for EXTL1 Gene