Exostosin-like glycosyltransferase 1 (EXTL1)

Exostosin-like glycosyltransferase 1 (EXTL1) is a member of the EXT family of glycosyltransferases involved in the polymerization and elongation of heparan sulfate (HS) and possibly heparin glycosaminoglycan chains[2][3]. The protein harbors alpha 1,4-N-acetylglucosaminyltransferase II activity, enabling it to transfer N-acetyl-alpha-D-glucosamine to growing HS chains, which is essential for HS chain elongation within proteoglycans[1][3]. Unlike family members EXT1 and EXT2, EXTL1 does not initiate HS synthesis, but mainly functions in chain elongation[1]. It has a restricted tissue expression pattern compared to other EXT proteins, being primarily detected in skeletal muscle, brain, and heart. EXTL1 is also considered a putative tumor suppressor, located at chromosomal region 1p36.1, a site often deleted in multiple human tumors, and is associated with hereditary multiple exostoses and possibly other tumor syndromes[1][2][3][4]. There are currently no widely recognized drugs directly targeting EXTL1 nor established biomarkers or safety concerns specifically associated with it. Its main relevance is in genetic, biochemical, and tumor biology contexts rather than as a direct drug target[2][3][4].

Other names

Exostosin-like 1EXTLExostosin-LAlpha-N-acetylglucosaminyltransferase IIGlucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferaseGlucuronyl-N-acetylglucosaminylproteoglycan alpha-1,4-N-acetylglucosaminyltransferaseMultiple exostosis-like protein